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+ Genes 956

Genes:
AADACL3, ABCA4, ABCB10, ABCD3, ABL2, ACBD3, ACOT11, ACP6, ACTL8, ACTN2, ADAM15, ADAMTS4, ADAMTSL4, ADAR, ADCK3, ADCY10, ADORA1, ADORA3, AGL, AGMAT, AGO4, AGRN, AGT, AHCTF1, AHDC1, AIM1L, AJAP1, AK5, AKNAD1, AKR7A3, AKR7L, AL020996.1, ALDH4A1, ALDH9A1, ALG6, ALPL, AMPD1, AMPD2, ANGPTL1, ANKRD35, ANKRD45, ANP32E, ANXA9, APCS, APH1A, APITD1-CORT, APOA1BP, APOBEC4, AQP10, ARHGAP29, ARHGAP30, ARHGEF10L, ARHGEF11, ARHGEF16, ARHGEF19, ARID4B, ARNT, ARTN, ASB17, ASH1L, ASPM, ASTN1, ATAD3C, ATF3, ATF6, ATP13A2, ATP1A4, ATP2B4, ATP6V0B, ATP8B2, ATPAF1, ATPIF1, AXDND1, B3GALNT2, BAI2, BCL2L15, BEND5, BLZF1, BMP8A, BRDT, C1QA, C1orf105, C1orf106, C1orf111, C1orf116, C1orf127, C1orf141, C1orf158, C1orf167, C1orf170, C1orf173, C1orf174, C1orf177, C1orf195, C1orf204, C1orf213, C1orf222, C1orf227, C1orf27, C1orf52, C1orf53, C1orf63, C1orf64, C1orf68, C1orf85, C1orf87, C2CD4D, C4BPA, C4BPB, C8A, C8B, CA6, CACHD1, CACNA1E, CACNA1S, CADM3, CALML6, CAMK1G, CAP1, CAPN2, CAPN8, CAPN9, CAPZA1, CASP9, CASQ2, CATSPER4, CCBL2, CCDC17, CCDC18, CCDC181, CCDC27, CCDC30, CD101, CD2, CD48, CD52, CD5L, CDA, CDC20, CDC42BPA, CDC7, CDCP2, CDK11A, CDK11B, CDK18, CELA2A, CELA2B, CELA3A, CELA3B, CELSR2, CENPF, CENPL, CEP104, CEP85, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CGN, CHD1L, CHD5, CHI3L1, CHI3L2, CHIA, CHML, CITED4, CLCA1, CLCA4, CLCC1, CLCN6, CLCNKA, CLCNKB, CLSTN1, CNN3, CNR2, CNST, CNTN2, COA6, COG2, COL11A1, COL16A1, COL24A1, COL9A2, COLGALT2, COPA, CPSF3L, CPT2, CR1, CR1L, CR2, CRB1, CRCT1, CREB3L4, CROCC, CRTC2, CRYZ, CSDE1, CSF1, CSF3R, CSMD2, CTBS, CTSE, CTSK, CTSS, CTTNBP2NL, CYB5R1, CYP4A11, CYP4A22, CYP4B1, CYP4Z1, DAB1, DARC, DBT, DCAF6, DCLRE1B, DCST1, DCST2, DDOST, DDR2, DDX20, DDX59, DENND1B, DENND2C, DENND4B, DEPDC1, DFFB, DHCR24, DHRS3, DHX9, DIEXF, DISC1, DISP1, DMBX1, DNAH14, DNAJC11, DNALI1, DNASE2B, DNM3, DNTTIP2, DOCK7, DPYD, DRAXIN, DSTYK, DTL, DUSP10, DUSP27, DVL1, ECE1, EDARADD, EDEM3, EFCAB2, EFNA1, EFNA3, EIF2D, EIF4G3, ELAVL4, ELF3, EMC1, ENO1, EPHA2, EPHA8, EPHB2, EPRS, EPS15, EPS8L3, ERO1LB, ESPN, ESRRG, ETNK2, ETV3L, EVI5, EXO1, EXO5, EXOSC10, EXTL1, F13B, F3, F5, FAAH, FAIM3, FAM110D, FAM131C, FAM151A, FAM163A, FAM177B, FAM212B, FAM46C, FAM63A, FAM71A, FBLIM1, FBXO2, FBXO6, FCAMR, FCGR2A, FCGR2C, FCRL1, FCRL3, FCRL4, FCRL5, FCRL6, FCRLA, FCRLB, FGGY, FHAD1, FLG2, FMN2, FMO1, FMO2, FMO3, FMO5, FMO6P, FMOD, FNDC7, FOXD2, FOXJ3, FOXO6, FPGT-TNNI3K, FRRS1, FUCA1, GABRD, GALNT2, GBP1, GBP2, GBP6, GBP7, GFI1, GIPC2, GJA4, GJA9, GLIS1, GLRX2, GLTPD1, GLUL, GNAT2, GNG4, GNPAT, GON4L, GORAB, GPATCH4, GPBP1L1, GPR153, GPR157, GPR161, GPR37L1, GPR88, GPSM2, GPX7, GRHL3, GRIK3, GSTM3, GSTM4, GTF2B, GUCA2A, GUCA2B, GUK1, H6PD, HAO2, HAX1, HCRTR1, HDGF, HEATR1, HES3, HES4, HEYL, HFM1, HHIPL2, HIPK1, HIST2H2BF, HIST3H3, HIVEP3, HLX, HMCN1, HMGB4, HMGCL, HNRNPCL1, HNRNPU, HORMAD1, HPCAL4, HRNR, HS2ST1, HSD3B1, HSPA6, HSPB7, HSPG2, HTR1D, HYI, IBA57, ID3, IER5, IFI16, IFI44, IFNLR1, IGFN1, IGSF3, IGSF9, IKBKE, IL12RB2, IL19, IL20, IL22RA1, IL23R, IL24, INADL, INPP5B, INSL5, INSRR, IPP, IQGAP3, IRF2BP2, ISG15, ITGA10, ITLN1, ITPKB, IVL, JAK1, JMJD4, KANK4, KAZN, KCNA10, KCNA2, KCNH1, KCNN3, KCNQ4, KCNT2, KCTD3, KDM5B, KIAA0040, KIAA1107, KIAA1324, KIAA1522, KIAA1614, KIAA2013, KIF14, KIF17, KIF1B, KIF21B, KIF26B, KIFAP3, KIRREL, KLF17, KLHDC7A, KLHDC8A, KLHL17, KLHL20, KMO, KPRP, L1TD1, LACTBL1, LAD1, LAMB3, LAMC1, LAMC2, LAMTOR5, LBR, LCE1C, LCE1D, LCE1E, LCE5A, LDLRAD2, LDLRAP1, LEFTY1, LEPR, LEPRE1, LGALS8, LGR6, LHX4, LHX9, LIN9, LINGO4, LMNA, LMO4, LMOD1, LMX1A, LOR, LPHN2, LPPR4, LRIG2, LRP8, LRRC38, LRRC41, LRRC71, LRRC8C, LRRC8D, LRRIQ3, LRRN2, LY9, LYPLAL1, MACF1, MAEL, MAGI3, MAP10, MAP3K6, MAP7D1, MAPKAPK2, MARC1, MASP2, MAST2, MCOLN2, MCOLN3, MECR, MEF2D, MEGF6, METTL11B, METTL13, MFAP2, MFSD4, MIA3, MIB2, MIIP, MKNK1, MMEL1, MNDA, MOB3C, MR1, MROH7, MROH9, MRPL37, MRPL9, MRPS15, MRTO4, MSH4, MTF2, MTHFR, MTMR11, MTOR, MTR, MTX1, MUC1, MUTYH, MYBPH, MYBPHL, MYCL, MYOM3, MYSM1, NADK, NASP, NBPF1, NBPF3, NCF2, NEGR1, NEK2, NENF, NES, NEXN, NFASC, NFIA, NFYC, NID1, NLRP3, NMNAT2, NOC2L, NOL9, NOS1AP, NOTCH2NL, NPHP4, NPHS2, NPPA, NR5A2, NRD1, NSL1, NSUN4, NT5C1A, NTNG1, NTRK1, NUAK2, NUF2, NUP210L, NVL, OAZ3, OBSCN, ODF2L, OLFML2B, OMA1, OPRD1, OR10J1, OR10J5, OR10K1, OR10R2, OR10Z1, OR11L1, OR13G1, OR14A16, OR14C36, OR14I1, OR1C1, OR2AK2, OR2B11, OR2C3, OR2G2, OR2G3, OR2G6, OR2L3, OR2L8, OR2M2, OR2M3, OR2M4, OR2M5, OR2M7, OR2T11, OR2T12, OR2T2, OR2T27, OR2T3, OR2T33, OR2T34, OR2T35, OR2T4, OR2T6, OR2T8, OR2W3, OR4F5, OR6N1, ORC1, PADI2, PADI3, PADI4, PANK4, PARP1, PARS2, PAX7, PBX1, PBXIP1, PCNXL2, PCSK9, PDE4DIP, PDIK1L, PDPN, PDZK1IP1, PEAR1, PEF1, PER3, PEX10, PEX14, PFKFB2, PGD, PGLYRP3, PGLYRP4, PGM1, PHACTR4, PHC2, PHGDH, PHLDA3, PI4KB, PIGC, PIGK, PIGR, PIK3C2B, PIK3R3, PINK1, PIP5K1A, PKLR, PKN2, PKP1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G4A, PLA2G5, PLCH2, PLD5, PLEKHA6, PLEKHG5, PLEKHN1, PLXNA2, PM20D1, PMF1-BGLAP, PMVK, PODN, POGZ, POMGNT1, PPFIA4, PPIAL4G, PPM1J, PPP1R15B, PPP2R5A, PRAMEF1, PRAMEF11, PRAMEF12, PRAMEF22, PRAMEF4, PRCC, PRDM16, PRDM2, PRELP, PRG4, PROK1, PRRC2C, PRUNE, PSEN2, PSMB4, PSMD4, PTBP2, PTCHD2, PTGER3, PTGFRN, PTPN14, PTPN22, PTPN7, PTPRF, QSOX1, RABGGTB, RAD54L, RAP1GAP, RBBP4, RBM15, RC3H1, RCAN3, RCC1, RCC2, RCOR3, RERE, RFX5, RGS16, RGS2, RGSL1, RHBDL2, RHBG, RHCE, RHD, RIT1, RNF186, RNF19B, RNF223, RNPC3, RNPEP, ROR1, RP11-126K1.2, RP11-156E8.1, RPAP2, RPF1, RPRD2, RPS6KA1, RRNAD1, RRP15, RTCA, RUNX3, RUSC1, RWDD3, RXFP4, RXRG, RYR2, S100A13, S100A7, S100A7A, S100A7L2, SAMD11, SASS6, SCAMP3, SCCPDH, SCNN1D, SCYL3, SDCCAG8, SDF4, SDHB, SEC16B, SELE, SELL, SELP, SEMA6C, SEPN1, SERINC2, SERPINC1, SERTAD4, SETDB1, SGIP1, SH2D2A, SH3D21, SHC1, SHCBP1L, SHE, SHISA4, SIPA1L2, SLAMF9, SLC16A1, SLC16A4, SLC1A7, SLC22A15, SLC25A24, SLC26A9, SLC2A1, SLC35F3, SLC41A1, SLC44A3, SLC44A5, SLC45A1, SLC5A9, SLC6A17, SLC9A1, SMAP2, SMG7, SMYD2, SMYD3, SNAP47, SNX7, SORT1, SOX13, SPAG17, SPATA17, SPATA21, SPATA6, SPEN, SPOCD1, SPSB1, SPTA1, SRGAP2, SRM, SRSF4, SSU72, SSX2IP, ST6GALNAC3, ST6GALNAC5, STIL, STK40, STPG1, STRIP1, STX6, SUCO, SUSD4, SWT1, SYCP1, SYDE2, SYNC, SYT11, SYT14, SYT2, SYTL1, SZT2, TACSTD2, TADA1, TAF5L, TAL1, TARBP1, TARS2, TAS1R1, TAS1R2, TAS1R3, TCEB3, TCHH, TCTEX1D1, TDRD10, TDRD5, TEDDM1, TEKT2, TESK2, TEX35, TEX38, TFB2M, TGFBR3, THEM4, THEM5, THEMIS2, THRAP3, TIE1, TLR5, TMCC2, TMCO1, TMCO4, TMED5, TMEM201, TMEM206, TMEM51, TMEM52, TMEM61, TMEM81, TMEM88B, TMEM9, TNFRSF14, TNFRSF4, TNFRSF8, TNN, TNNT2, TNR, TOR1AIP1, TOR3A, TP73, TPR, TRABD2B, TRAF3IP3, TRIM11, TRIM17, TRIM33, TRIM46, TRIM58, TRIM62, TRIM63, TRIT1, TRMT13, TRNP1, TSEN15, TSHB, TTC13, TTC22, TTC24, TTC34, TTC39A, TTC4, TTF2, TTLL10, TXNIP, TYW3, UBE2T, UBE4B, UBR4, UBXN11, UQCRH, URB2, USH2A, USP24, USP33, USP48, UTS2, VANGL2, VAV3, VCAM1, VPS13D, VWA5B1, WDR3, WDR47, WDR63, WDR64, WDR65, WDR78, WI2-3308P17.2, WLS, WNT2B, WNT9A, WRAP73, XCL2, YIPF1, YY1AP1, ZBED6, ZBTB17, ZBTB37, ZBTB40, ZBTB41, ZBTB7B, ZBTB8A, ZC3H11A, ZCCHC11, ZFP69B, ZMPSTE24, ZMYM1, ZMYM4, ZMYND12, ZNF326, ZNF436, ZNF593, ZNF683, ZNF684, ZNF695, ZNF697, ZSCAN20, ZSWIM5, ZYG11A, ZYG11B,

+ Genes associated with diseases 211

Genes at Omim

ABCA4, ABCD3, ABL2, ACTN2, ADAMTSL4, ADAR, ADCK3, ADCY10, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD1, AMPD2, APCS, ASH1L, ASPM, ATF6, ATP13A2, B3GALNT2, BRDT, C1QA, C8A, C8B, CACNA1E, CACNA1S, CASQ2, CENPF, CEP104, CFH, CFHR1, CFHR3, CHI3L1, CLCNKA, CLCNKB, CNTN2, COA6, COG2, COL11A1, COL9A2, COPA, CPT2, CR1, CR2, CRB1, CSF3R, CTSK, DAB1, DBT, DDOST, DDR2, DDX59, DHCR24, DISC1, DOCK7, DPYD, DSTYK, DVL1, ECE1, EDARADD, EMC1, ENO1, EPHA2, EPHB2, EPRS, ESPN, F13B, F5, FAAH, FCGR2A, FCGR2C, FLG2, FMN2, FMO3, FUCA1, GABRD, GFI1, GLUL, GNAT2, GNPAT, GORAB, GPR88, GPSM2, GRHL3, H6PD, HAX1, HFM1, HMCN1, HMGCL, HNRNPU, HSPG2, IBA57, IGSF3, IL23R, IRF2BP2, ISG15, KCNA2, KCNH1, KCNQ4, KCNT2, KDM5B, KIF14, KIF1B, LAMB3, LAMC2, LBR, LDLRAP1, LEPR, LHX4, LMNA, LOR, LRIG2, LRP8, MACF1, MASP2, MECR, MR1, MTHFR, MTOR, MTR, MUC1, MUTYH, MYSM1, NCF2, NEK2, NEXN, NFASC, NFIA, NLRP3, NPHP4, NPPA, NTRK1, ORC1, PADI3, PADI4, PAX7, PBX1, PCSK9, PER3, PEX10, PEX14, PGM1, PHGDH, PIGC, PINK1, PKLR, PKP1, PLA2G2A, PLA2G4A, PLA2G5, PLEKHG5, PMVK, POGZ, POMGNT1, PPP1R15B, PRCC, PRDM16, PRG4, PSEN2, PSMB4, PTPN14, PTPN22, PTPRF, RAD54L, RBM15, RERE, RFX5, RHCE, RHD, RIT1, RNPC3, ROR1, RYR2, SASS6, SDCCAG8, SDHB, SERPINC1, SLC16A1, SLC25A24, SLC2A1, SLC45A1, SLC6A17, SLC9A1, SORT1, SPTA1, STIL, SYT14, SYT2, SZT2, TACSTD2, TAL1, TARS2, TCHH, TLR5, TMCO1, TNFRSF4, TNNT2, TOR1AIP1, TRIT1, TSEN15, TSHB, UBE2T, USH2A, VANGL2, VPS13D, WNT2B, YY1AP1, ZMPSTE24,
ABCA4 Fundus flavimaculatus, 248200 (3)
{Macular degeneration, age-related, 2}, 153800 (3)
Cone-rod dystrophy 3, 604116 (3)
Retinal dystrophy, early-onset severe, 248200 (3)
Retinitis pigmentosa 19, 601718 (3)
Stargardt disease 1, 248200 (3)
ABCD3 ?Bile acid synthesis defect, congenital, 5, 616278 (3)
ABL2 Leukemia, acute myeloid, with eosinophilia (1)
ACTN2 Cardiomyopathy, dilated, 1AA, with or without LVNC, 612158 (3)
Cardiomyopathy, hypertrophic, 23, with or without LVNC, 612158 (3)
ADAMTSL4 Ectopia lentis et pupillae, 225200 (3)
Ectopia lentis, isolated, autosomal recessive, 225100 (3)
ADAR Aicardi-Goutieres syndrome 6, 615010 (3)
Dyschromatosis symmetrica hereditaria, 127400 (3)
ADCK3 Coenzyme Q10 deficiency, primary, 4, 612016 (3)
ADCY10 {Hypercalciuria, absorptive, susceptibility to}, 143870 (3)
AGL Glycogen storage disease IIIa, 232400 (3)
Glycogen storage disease IIIb, 232400 (3)
AGRN Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)
AGT {Hypertension, essential, susceptibility to}, 145500 (3)
{Preeclampsia, susceptibility to} (3)
Renal tubular dysgenesis, 267430 (3)
AHDC1 Xia-Gibbs syndrome, 615829 (3)
ALDH4A1 Hyperprolinemia, type II, 239510 (3)
ALG6 Congenital disorder of glycosylation, type Ic, 603147 (3)
ALPL Hypophosphatasia, adult, 146300 (3)
Hypophosphatasia, childhood, 241510 (3)
Hypophosphatasia, infantile, 241500 (3)
Odontohypophosphatasia, 146300 (3)
AMPD1 Myopathy due to myoadenylate deaminase deficiency, 615511 (3)
AMPD2 Pontocerebellar hypoplasia, type 9, 615809 (3)
?Spastic paraplegia 63, 615686 (3)
APCS {?Amyloidosis, secondary, susceptibility to} (1)
ASH1L Mental retardation, autosomal dominant 52, 617796 (3)
ASPM Microcephaly 5, primary, autosomal recessive, 608716 (3)
ATF6 Achromatopsia 7, 616517 (3)
ATP13A2 Kufor-Rakeb syndrome, 606693 (3)
Spastic paraplegia 78, autosomal recessive, 617225 (3)
B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)
BRDT ?Spermatogenic failure 21, 617644 (3)
C1QA C1q deficiency, 613652 (3)
C8A C8 deficiency, type I, 613790 (3)
C8B C8 deficiency, type II, 613789 (3)
CACNA1E Epileptic encephalopathy, early infantile, 69, 618285 (3)
CACNA1S {Malignant hyperthermia susceptibility 5}, 601887 (3)
Hypokalemic periodic paralysis, type 1, 170400 (3)
{Thyrotoxic periodic paralysis, susceptibility to, 1}, 188580 (3)
CASQ2 Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)
CENPF Stromme syndrome, 243605 (3)
CEP104 Joubert syndrome 25, 616781 (3)
CFH {Hemolytic uremic syndrome, atypical, susceptibility to, 1}, 235400 (3)
Basal laminar drusen, 126700 (3)
{Macular degeneration, age-related, 4}, 610698 (3)
Complement factor H deficiency, 609814 (3)
CFHR1 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CFHR3 {Hemolytic uremic syndrome, atypical, susceptibility to}, 235400 (3)
{Macular degeneration, age-related, reduced risk of}, 603075 (3)
CHI3L1 {Schizophrenia, susceptibility to}, 181500 (3)
{Asthma-related traits, susceptibility to, 7}, 611960 (3)
CLCNKA Bartter syndrome, type 4b, digenic, 613090 (3)
CLCNKB Bartter syndrome, type 3, 607364 (3)
Bartter syndrome, type 4b, digenic, 613090 (3)
CNTN2 ?Epilepsy, myoclonic, familial adult, 5, 615400 (3)
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4, 616501 (3)
COG2 ?Congenital disorder of glycosylation, type IIq, 617395 (3)
COL11A1 Fibrochondrogenesis 1, 228520 (3)
{Lumbar disc herniation, susceptibility to}, 603932 (3)
Marshall syndrome, 154780 (3)
Stickler syndrome, type II, 604841 (3)
COL9A2 Epiphyseal dysplasia, multiple, 2, 600204 (3)
?Stickler syndrome, type V, 614284 (3)
COPA {Autoimmune interstitial lung, joint, and kidney disease}, 616414 (3)
CPT2 CPT II deficiency, infantile, 600649 (3)
CPT II deficiency, lethal neonatal, 608836 (3)
CPT II deficiency, myopathic, stress-induced, 255110 (3)
{Encephalopathy, acute, infection-induced, 4, susceptibility to}, 614212 (3)
CR1 CR1 deficiency (1)
{Malaria, severe, resistance to}, 611162 (3)
[Blood group, Knops system], 607486 (3)
{?SLE susceptibility} (1)
CR2 Immunodeficiency, common variable, 7, 614699 (3)
{Systemic lupus erythematosus, susceptibility to, 9}, 610927 (3)
CRB1 Leber congenital amaurosis 8, 613835 (3)
Pigmented paravenous chorioretinal atrophy, 172870 (3)
Retinitis pigmentosa-12, 600105 (3)
CSF3R Neutropenia, severe congenital, 7, autosomal recessive, 617014 (3)
CTSK Pycnodysostosis, 265800 (3)
DAB1 Spinocerebellar ataxia 37, 615945 (3)
DBT Maple syrup urine disease, type II, 248600 (3)
DDOST ?Congenital disorder of glycosylation, type Ir, 614507 (3)
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type, 271665 (3)
Warburg-Cinotti syndrome, 618175 (3)
DDX59 Orofaciodigital syndrome V, 174300 (3)
DHCR24 Desmosterolosis, 602398 (3)
DISC1 {Schizophrenia 9, susceptibility to}, 604906 (3)
DOCK7 Epileptic encephalopathy, early infantile, 23, 615859 (3)
DPYD Dihydropyrimidine dehydrogenase deficiency, 274270 (3)
5-fluorouracil toxicity, 274270 (3)
DSTYK Congenital anomalies of kidney and urinary tract 1, 610805 (3)
Spastic paraplegia 23, 270750 (3)
DVL1 Robinow syndrome, autosomal dominant 2, 616331 (3)
ECE1 {Hypertension, essential, susceptibility to}, 145500 (3)
?Hirschsprung disease, cardiac defects, and autonomic dysfunction, 613870 (3)
EDARADD Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant, 614940 (3)
Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive, 614941 (3)
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 (3)
ENO1 Enolase deficiency (1)
EPHA2 Cataract 6, multiple types, 116600 (3)
EPHB2 {Prostate cancer/brain cancer susceptibility, somatic}, 603688 (3)
EPRS Leukodystrophy, hypomyelinating, 15, 617951 (3)
ESPN Deafness, autosomal recessive 36, 609006 (3)
Deafness, neurosensory, without vestibular involvement, autosomal dominant (3)
F13B Factor XIIIB deficiency, 613235 (3)
F5 Factor V deficiency, 227400 (3)
{Pregnancy loss, recurrent, susceptibility to, 1}, 614389 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
{Thrombophilia, susceptibility to, due to factor V Leiden}, 188055 (3)
Thrombophilia due to activated protein C resistance, 188055 (3)
{Budd-Chiari syndrome}, 600880 (3)
FAAH {Drug addiction, susceptibility to}, 606581 (3)
FCGR2A {Lupus nephritis, susceptibility to}, 152700 (3)
{Malaria, severe, susceptibility to}, 611162 (3)
{Pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis}, 219700 (3)
FCGR2C Thrombocytopenic purpura, autoimmune, 188030 (1)
FLG2 Peeling skin syndrome 6, 618084 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FMO3 Trimethylaminuria, 602079 (3)
FUCA1 Fucosidosis, 230000 (3)
GABRD {Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to}, 613060 (3)
{Epilepsy, idiopathic generalized, 10}, 613060 (3)
{Epilepsy, juvenile myoclonic, susceptibility to}, 613060 (3)
GFI1 ?Neutropenia, nonimmune chronic idiopathic, of adults, 607847 (3)
?Neutropenia, severe congenital 2, autosomal dominant, 613107 (3)
GLUL Glutamine deficiency, congenital, 610015 (3)
GNAT2 Achromatopsia 4, 613856 (3)
GNPAT Rhizomelic chondrodysplasia punctata, type 2, 222765 (3)
GORAB Geroderma osteodysplasticum, 231070 (3)
GPR88 ?Chorea, childhood-onset, with psychomotor retardation, 616939 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GRHL3 Van der Woude syndrome 2, 606713 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HAX1 Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)
HFM1 Premature ovarian failure 9, 615724 (3)
HMCN1 {Macular degeneration, age-related, 1}, 603075 (3)
HMGCL HMG-CoA lyase deficiency, 246450 (3)
HNRNPU Epileptic encephalopathy, early infantile, 54, 617391 (3)
HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type, 224410 (3)
Schwartz-Jampel syndrome, type 1, 255800 (3)
IBA57 Multiple mitochondrial dysfunctions syndrome 3, 615330 (3)
?Spastic paraplegia 74, autosomal recessive, 616451 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
IL23R {Inflammatory bowel disease 17, protection against}, 612261 (3)
{Psoriasis, protection against}, 605606 (3)
IRF2BP2 ?Immunodeficiency, common variable, 14, 617765 (3)
ISG15 Immunodeficiency 38, 616126 (3)
KCNA2 Epileptic encephalopathy, early infantile, 32, 616366 (3)
KCNH1 Temple-Baraitser syndrome, 611816 (3)
Zimmermann-Laband syndrome 1, 135500 (3)
KCNQ4 Deafness, autosomal dominant 2A, 600101 (3)
KCNT2 ?Epileptic encephalopathy, early infantile, 57, 617771 (3)
KDM5B Mental retardation, autosomal recessive 65, 618109 (3)
KIF14 Microcephaly 20, primary, autosomal recessive, 617914 (3)
?Meckel syndrome 12, 616258 (3)
KIF1B {Neuroblastoma, susceptibility to, 1}, 256700 (3)
Pheochromocytoma, 171300 (3)
?Charcot-Marie-Tooth disease, type 2A1, 118210 (3)
LAMB3 Amelogenesis imperfecta, type IA, 104530 (3)
Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LAMC2 Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
LBR Greenberg skeletal dysplasia, 215140 (3)
Pelger-Huet anomaly with mild skeletal anomalies, 618019 (3)
Pelger-Huet anomaly, 169400 (3)
?Reynolds syndrome, 613471 (3)
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive, 603813 (3)
LEPR Obesity, morbid, due to leptin receptor deficiency, 614963 (3)
LHX4 Pituitary hormone deficiency, combined, 4, 262700 (3)
LMNA Cardiomyopathy, dilated, 1A, 115200 (3)
Heart-hand syndrome, Slovenian type, 610140 (3)
Charcot-Marie-Tooth disease, type 2B1, 605588 (3)
Hutchinson-Gilford progeria, 176670 (3)
Lipodystrophy, familial partial, type 2, 151660 (3)
Emery-Dreifuss muscular dystrophy 2, autosomal dominant, 181350 (3)
Emery-Dreifuss muscular dystrophy 3, autosomal recessive, 616516 (3)
Malouf syndrome, 212112 (3)
Mandibuloacral dysplasia, 248370 (3)
Muscular dystrophy, congenital, 613205 (3)
Restrictive dermopathy, lethal, 275210 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
LRIG2 Urofacial syndrome 2, 615112 (3)
LRP8 {Myocardial infarction, susceptibility to}, 608446 (3)
MACF1 Lissencephaly 9 with complex brainstem malformation, 618325 (3)
MASP2 MASP2 deficiency, 613791 (3)
MECR Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities, 617282 (3)
MR1 Paroxysmal nonkinesigenic dyskinesia 1, 118800 (3)
MTHFR Homocystinuria due to MTHFR deficiency, 236250 (3)
{Neural tube defects, susceptibility to}, 601634 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
{Thromboembolism, susceptibility to}, 188050 (3)
{Vascular disease, susceptibility to} (3)
MTOR Focal cortical dysplasia, type II, somatic, 607341 (3)
Smith-Kingsmore syndrome, 616638 (3)
MTR Homocystinuria-megaloblastic anemia, cblG complementation type, 250940 (3)
{Neural tube defects, folate-sensitive, susceptibility to}, 601634 (3)
MUC1 Medullary cystic kidney disease 1, 174000 (3)
MUTYH Adenomas, multiple colorectal, 608456 (3)
Gastric cancer, somatic, 613659 (3)
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas, 132600 (3)
MYSM1 Bone marrow failure syndrome 4, 618116 (3)
NCF2 Chronic granulomatous disease due to deficiency of NCF-2, 233710 (3)
NEK2 ?Retinitis pigmentosa 67, 615565 (3)
NEXN Cardiomyopathy, dilated, 1CC, 613122 (3)
Cardiomyopathy, hypertrophic, 20, 613876 (3)
NFASC Neurodevelopmental disorder with central and peripheral motor dysfunction, 618356 (3)
NFIA Brain malformations with or without urinary tract defects, 613735 (3)
NLRP3 Familial cold inflammatory syndrome 1, 120100 (3)
CINCA syndrome, 607115 (3)
Deafness, autosomal dominant 34, with or without inflammation, 617772 (3)
Keratoendothelitis fugax hereditaria, 148200 (3)
Muckle-Wells syndrome, 191900 (3)
NPHP4 Nephronophthisis 4, 606966 (3)
Senior-Loken syndrome 4, 606996 (3)
NPPA Atrial fibrillation, familial, 6, 612201 (3)
Atrial standstill 2, 615745 (3)
NTRK1 Insensitivity to pain, congenital, with anhidrosis, 256800 (3)
Medullary thyroid carcinoma, familial, 155240 (3)
ORC1 Meier-Gorlin syndrome 1, 224690 (3)
PADI3 Uncombable hair syndrome, 191480 (3)
PADI4 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
PAX7 Rhabdomyosarcoma 2, alveolar, 268220 (3)
PBX1 Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, 617641 (3)
PCSK9 {Low density lipoprotein cholesterol level QTL 1}, 603776 (3)
Hypercholesterolemia, familial, 3, 603776 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PEX10 Peroxisome biogenesis disorder 6A (Zellweger), 614870 (3)
Peroxisome biogenesis disorder 6B, 614871 (3)
PEX14 Peroxisome biogenesis disorder 13A (Zellweger), 614887 (3)
PGM1 Congenital disorder of glycosylation, type It, 614921 (3)
PHGDH Neu-Laxova syndrome 1, 256520 (3)
Phosphoglycerate dehydrogenase deficiency, 601815 (3)
PIGC Glycosylphosphatidylinositol biosynthesis defect 16, 617816 (3)
PINK1 Parkinson disease 6, early onset, 605909 (3)
PKLR Adenosine triphosphate, elevated, of erythrocytes, 102900 (3)
Pyruvate kinase deficiency, 266200 (3)
PKP1 Ectodermal dysplasia/skin fragility syndrome, 604536 (3)
PLA2G2A {?Colorectal cancer, susceptibility to}, 114500 (3)
PLA2G4A Gastrointestinal ulceration, recurrent, with dysfunctional platelets, 618372 (3)
PLA2G5 [Fleck retina, familial benign], 228980 (3)
PLEKHG5 Charcot-Marie-Tooth disease, recessive intermediate C, 615376 (3)
Spinal muscular atrophy, distal, autosomal recessive, 4, 611067 (3)
PMVK Porokeratosis 1, multiple types, 175800 (3)
POGZ White-Sutton syndrome, 616364 (3)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3)
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3, 613151 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3, 613157 (3)
Retinitis pigmentosa 76, 617123 (3)
PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2, 616817 (3)
PRCC Renal cell carcinoma, papillary, 605074 (3)
PRDM16 Cardiomyopathy, dilated, 1LL, 615373 (3)
Left ventricular noncompaction 8, 615373 (3)
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, 208250 (3)
PSEN2 Alzheimer disease-4, 606889 (3)
Cardiomyopathy, dilated, 1V, 613697 (3)
PSMB4 ?Proteasome-associated autoinflammatory syndrome 3 and digenic forms, 617591 (3)
PTPN14 Choanal atresia and lymphedema, 613611 (3)
PTPN22 {Rheumatoid arthritis, susceptibility to}, 180300 (3)
{Systemic lupus erythematosus susceptibility to}, 152700 (3)
{Diabetes, type 1, susceptibility to}, 222100 (3)
PTPRF ?Breasts and/or nipples, aplasia or hypoplasia of, 2, 616001 (3)
RAD54L Adenocarcinoma, colonic, somatic (3)
Lymphoma, non-Hodgkin, somatic, 605027 (3)
{Breast cancer, invasive ductal}, 114480 (3)
RBM15 Megakaryoblastic leukemia, acute (2)
RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
RFX5 Bare lymphocyte syndrome, type II, complementation group C, 209920 (3)
Bare lymphocyte syndrome, type II, complementation group E, 209920 (3)
RHCE Rh-null disease, amorph type, 617970 (3)
[Blood group, Rhesus] (3)
RHD [Rh-negative blood type] (3)
RIT1 Noonan syndrome 8, 615355 (3)
RNPC3 ?Growth hormone deficiency, isolated, type V, 618160 (3)
ROR1 ?Deafness, autosomal recessive 108, 617654 (3)
RYR2 Arrhythmogenic right ventricular dysplasia 2, 600996 (3)
Ventricular tachycardia, catecholaminergic polymorphic, 1, 604772 (3)
SASS6 ?Microcephaly 14, primary, autosomal recessive, 616402 (3)
SDCCAG8 Bardet-Biedl syndrome 16, 615993 (3)
Senior-Loken syndrome 7, 613615 (3)
SDHB Gastrointestinal stromal tumor, 606764 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 4, 115310 (3)
Pheochromocytoma, 171300 (3)
SERPINC1 Thrombophilia due to antithrombin III deficiency, 613118 (3)
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7, 610021 (3)
Erythrocyte lactate transporter defect, 245340 (3)
Monocarboxylate transporter 1 deficiency, 616095 (3)
SLC25A24 Fontaine progeroid syndrome, 612289 (3)
SLC2A1 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 (3)
GLUT1 deficiency syndrome 2, childhood onset, 612126 (3)
Dystonia 9, 601042 (3)
Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 (3)
{Epilepsy, idiopathic generalized, susceptibility to, 12}, 614847 (3)
SLC45A1 Intellectual developmental disorder with neuropsychiatric features, 617532 (3)
SLC6A17 Mental retardation, autosomal recessive 48, 616269 (3)
SLC9A1 ?Lichtenstein-Knorr syndrome, 616291 (3)
SORT1 [Low density lipoprotein cholesterol level QTL6], 613589 (3)
SPTA1 Elliptocytosis-2, 130600 (3)
Pyropoikilocytosis, 266140 (3)
Spherocytosis, type 3, 270970 (3)
STIL Microcephaly 7, primary, autosomal recessive, 612703 (3)
SYT14 ?Spinocerebellar ataxia, autosomal recessive 11, 614229 (3)
SYT2 Myasthenic syndrome, congenital, 7, presynaptic, 616040 (3)
SZT2 Epileptic encephalopathy, early infantile, 18, 615476 (3)
TACSTD2 Corneal dystrophy, gelatinous drop-like, 204870 (3)
TAL1 Leukemia, T-cell acute lymphocytic, somatic, 613065 (3)
TARS2 ?Combined oxidative phosphorylation deficiency 21, 615918 (3)
TCHH ?Uncombable hair syndrome 3, 617252 (3)
TLR5 {Legionnaire disease, susceptibility to}, 608556 (3)
{Melioidosis, susceptibility to}, 615557 (3)
{Systemic lupus erythematosus, resistance to}, 601744 (3)
{Systemic lupus erythematosus, susceptibility to, 1}, 601744 (3)
TMCO1 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, 213980 (3)
TNFRSF4 ?Immunodeficiency 16, 615593 (3)
TNNT2 Cardiomyopathy, dilated, 1D, 601494 (3)
Cardiomyopathy, familial restrictive, 3, 612422 (3)
Cardiomyopathy, hypertrophic, 2, 115195 (3)
Left ventricular noncompaction 6, 601494 (3)
TOR1AIP1 ?Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, 617072 (3)
TRIT1 Combined oxidative phosphorylation deficiency 35, 617873 (3)
TSEN15 Pontocerebellar hypoplasia, type 2F, 617026 (3)
TSHB Hypothyroidism, congenital, nongoitrous 4, 275100 (3)
UBE2T Fanconi anemia, complementation group T, 616435 (3)
USH2A Retinitis pigmentosa 39, 613809 (3)
Usher syndrome, type 2A, 276901 (3)
VANGL2 Neural tube defects, 182940 (3)
VPS13D Spinocerebellar ataxia, autosomal recessive 4, 607317 (3)
WNT2B Diarrhea 9, 618168 (3)
YY1AP1 Grange syndrome, 602531 (3)
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy, 608612 (3)
Restrictive dermopathy, lethal, 275210 (3)

Genes at Clinical Genomics Database

ABCA4, ABCD3, ACTN2, ADAMTSL4, ADAR, ADCK3, AGL, AGRN, AGT, AHDC1, ALDH4A1, ALG6, ALPL, AMPD1, AMPD2, ASPM, ATF6, ATP13A2, B3GALNT2, C1QA, C8A, C8B, CACNA1S, CASQ2, CENPF, CFH, CFHR1, CFHR3, CFHR4, CLCNKA, CLCNKB, CNTN2, COA6, COL11A1, COL9A2, COPA, CPT2, CR1, CR2, CRB1, CSF3R, CTSK, DBT, DDOST, DDR2, DDX59, DHCR24, DOCK7, DPYD, DSTYK, DVL1, ECE1, EDARADD, EMC1, EPHA2, ESPN, F13B, F5, FMN2, FMO3, FUCA1, GFI1, GLUL, GNAT2, GNPAT, GORAB, GPR88, GPSM2, GRHL3, H6PD, HAX1, HFM1, HMCN1, HMGCL, HSPG2, IBA57, IGSF3, ISG15, KCNA2, KCNH1, KCNQ4, KIF14, KIF1B, LAMB3, LAMC2, LBR, LDLRAP1, LEPR, LHX4, LMNA, LOR, LRIG2, MAP3K6, MASP2, MR1, MTHFR, MTOR, MTR, MUC1, MUTYH, NCF2, NEK2, NEXN, NLRP3, NPHP4, NPHS2, NPPA, NTRK1, ORC1, PCSK9, PER3, PEX10, PEX14, PGM1, PHGDH, PINK1, PKLR, PKP1, PLA2G4A, PLA2G5, PLEKHG5, PMVK, POGZ, POMGNT1, PPP1R15B, PRDM16, PRG4, PSEN2, PTPN14, PTPRF, RFX5, RHCE, RIT1, RYR2, SASS6, SDCCAG8, SDHB, SEPN1, SERPINC1, SLC16A1, SLC2A1, SLC41A1, SLC6A17, SLC9A1, SPTA1, STIL, SYT14, SYT2, SZT2, TACSTD2, TARS2, TMCO1, TNFRSF4, TNNT2, TSHB, UBE2T, USH2A, VANGL2, ZMPSTE24,
ABCA4 Cone-rod dystrophy 3
Retinitis pigmentosa 19
Stargardt disease 1
Retinal dystrophy, early-onset severe
Fundus flavimaculatus
ABCD3 Bile acid synthesis defect, congenital, 5
ACTN2 Cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction
Cardiomyopathy, hypertrophic 23, with or without left ventricular noncompaction
ADAMTSL4 Ectopia lentis, isolated, autosomal recessive
ADAR Dyschromatosis symmetrica hereditaria
Aicardi-Goutieres syndrome 6
ADCK3 Coenzyme Q10 deficiency
Progressive cerebellar ataxia and atrophy
Spinocerebellar ataxia 9
AGL Glycogen storage disease III
AGRN Myasthenic syndrome, congenital 8
AGT Renal tubular dysgenesis
AHDC1 Mental retardation, autosomal dominant 25 (Xia-Gibbs syndrome)
ALDH4A1 Hyperprolinemia, type II
ALG6 Congenital disorder of glycosylation, type Ic
ALPL Hypophosphatasia, infantile
Odontohypophosphatasia
AMPD1 Myoadenylate deaminase deficiency
AMPD2 Pontocerebellar hypoplasia type 9
Spastic paraplegia 63
ASPM Microcephaly, primary autosomal recessive, 5
ATF6 Achromatopsia 7
ATP13A2 Parkinson disease 9 (Kufor-Rakeb syndrome)
Ceroid lipofuscinosis, neuronal, 12
B3GALNT2 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11
C1QA C1q deficiency
C8A Complement component 8 deficiency, type I
C8B Complement component 8 deficiency, type II
CACNA1S Malignant hyperthermia susceptibility 5
Thyrotoxic period paralysis, susceptibility 1
Hypokalemic periodic paralysis, type 1
CASQ2 Ventricular tachycardia, catecholaminergic, polymorphic, 2
CENPF Ciliary dyskinesia, primary 31 (Stromme syndrome)
CFH Hemolytic uremic syndrome, atypical
Complement factor H deficiency
CFHR1 Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR3 Hemolytic-uremic syndrome, atypical, susceptibility to
CFHR4 Hemolytic-uremic syndrome, atypical, susceptibility to
CLCNKA Bartter syndrome, type 4, digenic
CLCNKB Bartter syndrome, type 4, digenic
Bartter syndrome, type 3
CNTN2 Epilepsy, familial adult myoclonic 5
COA6 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4
COL11A1 Stickler syndrome, type II
Fibrochondrogenesis
Marshall syndrome
COL9A2 Stickler syndrome, Type V
COPA Autoimmune interstitial lung, joint, and kidney disease
CPT2 Carnitine palmitoyltransferase II deficiency
CR1 Blood group, Knops system
CR2 Common variable immune deficiency, 7
CRB1 Leber congenital amaurosis 8
Retinitis pigmentosa 12, autosomal recessive
Pigmented paravenous chorioretinal atrophy
CSF3R Neutrophilia, hereditary
CTSK Pycnodysostosis
DBT Maple syrup urine disease, type II
DDOST Congenital disorder of glycosylation, type Ir
DDR2 Spondylometaepiphyseal dysplasia, short limb-hand type
DDX59 Orofaciodigital syndrome V
DHCR24 Desmosterolosis
DOCK7 Epilepitic encephalopathy, early infantile, 23
DPYD 5-fluorouracil toxicity
DSTYK Congenital anomalies of the kidney and urinary tract 1
DVL1 Robinow syndrome, autosomal dominant 2
ECE1 Hirschsprung disease, cardiac defects, and autonomic dysfunction
EDARADD Ectodermal dysplasia, anhidrotic, autosomal dominant
Ectodermal dysplasia, anhidrotic, autosomal recessive
Ectodermal dysplasia, hypohidrotic, autosomal dominant
Ectodermal dysplasia, hypohidrotic, autosomal recessive
EMC1 Cerebellar atrophy, visual impairment, and psychomotor retardation
EPHA2 Cataract 6, multiple types
ESPN Deafness, autosomal dominant, without vestibular involvement
Deafness, autosomal recessive 36
F13B Factor XIIIB deficiency
F5 Thrombophilia due to activated protein C resistance
Factor V deficiency
FMN2 Mental retardation, autosomal recessive, 47
FMO3 Trimethylaminuria
FUCA1 Fucosidosis
GFI1 Neutropenia, severe congenital, 2 autosomal dominant
Neutropenia, nonimmune chronic idiopathic, of adults
GLUL Glutamine deficiency, congenital
GNAT2 Achromatopsia 4
GNPAT Rhizomelic chondrodysplasia punctata, rhizomelic, type 2
GORAB Geroderma osteodysplasticum
GPR88 Chorea, childhood-onset, with psychomotor retardation
GPSM2 Chudley-McCullough syndrome
Deafness, autosomal recessive 82
GRHL3 van der Woude syndrome 2
H6PD Cortisone reductase deficiency
HAX1 Neutropenia, severe congenital, 3
HFM1 Premature ovarian failure 9
HMCN1 Macular degeneration, age-related, 1
HMGCL 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
HSPG2 Schwartz-Jampel syndrome, type 1
IBA57 Multiple mitochondrial dysfunctions syndrome 3
Spastic paraplegia 74, autosomal recessive
IGSF3 Lacrimal duct defect
ISG15 Immunodeficiency 38, with basal ganglia calcification
KCNA2 Epileptic encephalopathy, early infantile 32
KCNH1 Temple-Baraitser syndrome
Zimmermann-Laband syndrome 1
KCNQ4 Deafness, autosomal dominant 2A
KIF14 Meckel syndrome 12
KIF1B Neuroblastoma, susceptibility to
Pheochromocytoma
LAMB3 Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, Herlitz type
Amelogenesis imperfecta, type IA
LAMC2 Epidermolysis bullosa, junctional, non-Herlitz type
Epidermolysis bullosa, junctional, Herlitz type
LBR Hydrops-ectopic calcification-moth-eaten skeletal dysplasia
Reynolds syndrome
Pelger-Huet anomaly
Greenberg/HEM skeletal dysplasia
LDLRAP1 Hypercholesterolemia, familial, autosomal recessive
LEPR Leptin receptor deficiency
LHX4 Pituitary hormone deficiency, combined, 4
LMNA Cardiomyopathy, dilated, 1A
Heart-hand syndrome, Slovenian type
Emery-Dreiffus muscular dystrophy, autosomal dominant
Emery-Dreiffus muscular dystrophy 3, autosomal recessive
Muscular dystrophy, congenital, LMNA-related
Limb-girdle muscular dystrophy type 1B
Malouf syndrome
Lipodystrophy, familial partial, 2 (Dunnigan type)
LOR Vohwinkel syndrome, variant form
LRIG2 Urofacial syndrome 2
MAP3K6 Familial gastric cancer
MASP2 MASP2 deficiency
MR1 Paroxysmal nonkinesigenic dyskinesia
MTHFR Homocystinuria due to MTHFR deficiency
MTOR Smith-Kingsmore syndrome
MTR Methylmalonic acidemia, cblG type
MUC1 Medullary cystic kidney disease 1
MUTYH Familial adenomatous polyposis, 2
Colorectal adenomatous polyposis, autosomal recessive, with pilomatricomas
NCF2 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type II
NEK2 Retinitis pigmentosa 67
NEXN Cardiomyopathy, familial hypertrophic, 20
Cardiomyopathy, dilated, 1CC
NLRP3 Chronic Infantile Neurologic Cutaneous Articular (CINCA) syndrome
Neonatal Onset Multisystem Inflammatory Disease (NOMID)
Muckle-Wells syndrome
NPHP4 Nephronophthisis 4
Senior-Loken syndrome 4
NPHS2 Nephrotic syndrome, type 2
NPPA Atrial fibrillation, familial, 6
Atrial standstill 2
NTRK1 Insensitivity to pain, congenital, with anhidrosis
ORC1 Meier-Gorlin syndrome 1
PCSK9 Hypercholesterolemia, familial, 3
PER3 Advanced sleep phase syndrome, familial, 3
PEX10 Peroxisome biogenesis disorder 6B
Peroxisome biogenesis factor disorder 10
Adrenoleukodystrophy, neonatal
Zellweger syndrome
Ataxia, autosomal recessive
PEX14 Zellweger syndrome
Peroxisome biogenesis factor disorder 14
PGM1 Congenital disorder of glycosylation, type It
PHGDH Phosphoglycerate dehydrogenase deficiency
PINK1 Parkinson disease 6, autosomal recessive, early onset
PKLR Pyruvate kinase deficiency
PKP1 Ectodermal dysplasia/skin fragility syndrome
PLA2G4A Phospholipase A2, group IV A, deficiency of
PLA2G5 Fleck retina, familial benign
PLEKHG5 Charcot-Marie-Tooth disease C, recessive intermediate
Spinal muscular atrophy, distal, autosomal recessive, 4
PMVK Porokeratosis 1
POGZ Mental retardation, autosomal dominant 37 (White-Sutton syndrome)
POMGNT1 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3
Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
PPP1R15B Microcephaly, short stature, and impaired glucose metabolism 2
PRDM16 Cardiomyopathy, dilated, ILL
Left ventricular noncompaction 8
PRG4 Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
PSEN2 Cardiomyopathy, dilated, 1V
Peripartum/pregnancy-associated cardiomyopathy
PTPN14 Choanal atresia and lymphedema
PTPRF Breasts and/or nipples, aplasia or hypoplasia of, 2
RFX5 Bare lymphocyte syndrome, type II
RHCE Rhesus blood group
RIT1 Noonan syndrome 8
RYR2 Ventricular tachycardia, catecholaminergic polymorphic, 1
Arrhythmogenic right ventricular dysplasia 2
SASS6 Microcephaly 14, primary, autosomal recessive
SDCCAG8 Bardet-Biedl syndrome 16
Senior-Loken syndrome 7
SDHB Pheochromocytoma
Gastrointestinal stromal tumor
Cowden-like syndrome
Paraganglioma and gastric stromal sarcoma
Paragangliomas 4
SEPN1 Muscular dystrophy, rigid spine, 1
Myopathy, congenital, with fiber-type disproportion
SERPINC1 Antithrombin III deficiency
SLC16A1 Hyperinsulinemic hypoglycemia, familial, 7
Erythrocyte lactate transporter defect
Monocarboxylate transporter 1 deficiency (AR)
SLC2A1 GLUT1 deficiency syndrome 1
GLUT1 deficiency syndrome 2
Epilepsy, idiopathic generalized, susceptibility to, 12
Stomatin-deficient cryohydrocytosis with neurologic defects
SLC41A1 Nephronophthisis-like ciliopathy
SLC6A17 Mental retardation, autosomal recessive 48
SLC9A1 Spinocerebellar ataxia, autosomal recessive 19 (Lichtenstein-Knorr syndrome)
SPTA1 Spherocytosis, type 3
Pyropoikilocytosis , hereditary
Ellipsocytosis 2
STIL Microcephaly, primary autosomal recessive, 7
SYT14 Spinocerebellar ataxia, autosomal recessive 11
SYT2 Myasthenic syndrome, congenital 7
SZT2 Epileptic encephalopathy, early infantile, 18
TACSTD2 Corneal dystrophy, gelatinous drop-like
TARS2 Combined oxidative phosphorylation deficiency 21
TMCO1 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
TNFRSF4 Immunodeficiency 16
TNNT2 Cardiomyopathy, familial restrictive, 3
Cardiomyopathy, dilated, 1D
Left ventricular noncompaction 6
Cardiomyopathy, familial hypertrophic, 2
TSHB Hypothyroidism, congenital, nongoitrous, 4
UBE2T Fanconi anemia, complementation group T
USH2A Usher syndrome, type 2A
VANGL2 Neural tube defects
ZMPSTE24 Mandibuloacral dysplasia with type B lipodystrophy
Restrictive dermopathy, lethal

Genes at HGMD

Summary

Number of Variants: 3407
Number of Genes: 956

Export to: CSV

AADACL3
Omim - GeneCards - NCBI
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs3000859
dbSNP Clinvar 		12776344 499.77 A T PASS 0/1 46 START_GAINED LOW None 0.65655 0.65650 0.27373 1.00 0.00 None None None None None None AADACL3|0.001467435|92.94%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs3010876
dbSNP Clinvar 		12779560 1034.77 T C PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.84944 0.84940 0.14324 None None None None None None AADACL3|0.001467435|92.94%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs3010877
dbSNP Clinvar 		12779618 438.77 T C PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.84804 0.84800 0.14252 1.00 0.00 None None None None None None AADACL3|0.001467435|92.94%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs7513079
dbSNP Clinvar 		12785494 1068.77 G T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.68231 0.68230 0.33289 0.26 0.22 None None None None None None AADACL3|0.001467435|92.94%

ABCA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1762114
dbSNP Clinvar 		94471075 3474.77 A G PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.76997 0.77000 0.22428 None None None None None None ABCA4|0.440503373|18.63%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs76258939
dbSNP Clinvar 		94502888 937.77 A G PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.00008 1.00 0.00 None None None None None None ABCA4|0.440503373|18.63%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1801574
dbSNP Clinvar 		94476388 1001.77 C G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.20068 0.20070 0.24927 None None None None None None ABCA4|0.440503373|18.63%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs4147857
dbSNP Clinvar 		94474328 1667.77 T C PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.18750 0.18750 0.20691 None None None None None None ABCA4|0.440503373|18.63%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2275029
dbSNP Clinvar 		94473845 697.77 T C PASS 0/1 96 SYNONYMOUS_CODING LOW None 0.16713 0.16710 0.19968 None None None None None None ABCA4|0.440503373|18.63%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs4847281
dbSNP Clinvar 		94578548 1373.77 T C PASS 1/1 51 SYNONYMOUS_CODING LOW None 0.98702 0.98700 0.01230 None None None None None None ABCA4|0.440503373|18.63%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs3112831
dbSNP Clinvar 		94544234 831.77 T C PASS 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.22085 0.22080 0.26065 0.63 0.00 None None None None None None ABCA4|0.440503373|18.63%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs61754024
dbSNP Clinvar 		94528142 407.77 A C PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00208 0.00 0.26 None None None None None None ABCA4|0.440503373|18.63%

ABCB10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs201773661
dbSNP Clinvar 		229654098 1013.77 C T PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00 0.07 None None None None None None ABCB10|0.028326577|70.29%

ABCD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs16946
dbSNP Clinvar 		94930345 577.77 G A PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.27995 0.28000 0.37221 None None None None None None ABCD3|0.51958761|15.03%

ABL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1318056
dbSNP Clinvar 		179112145 906.77 C G PASS 0/1 83 None None None 0.07428 0.07428 0.09309 0.04 0.01 None None None None None None ABL2|0.343693287|24.57%

ACBD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2306120
dbSNP Clinvar 		226352498 1059.77 T G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.53115 0.53120 0.40105 0.02 0.24 None None None None None None ACBD3|0.308663424|26.94%

ACOT11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1702003
dbSNP Clinvar 		55060362 850.77 G A PASS 0/1 59 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.25539 0.25540 0.17154 0.95 0.00 None None None None None None ACOT11|0.083532045|54.52%

ACP6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2153463
dbSNP Clinvar 		147124310 284.77 T G PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.27434 None None None None None None ACP6|0.053267553|61.72%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6593795
dbSNP Clinvar 		147121977 929.77 C T PASS 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.98443 0.98440 0.01453 0.13 0.09 None None None None None None ACP6|0.053267553|61.72%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1344
dbSNP Clinvar 		147119273 923.77 G A PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.47923 0.47920 0.46886 None None None None None None ACP6|0.053267553|61.72%

ACTL8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs12408385
dbSNP Clinvar 		18149593 2339.77 G A PASS 0/1 204 SYNONYMOUS_CODING LOW None 0.00399 0.00399 0.00077 None None None None None None ACTL8|0.001905215|91.23%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs761244417
dbSNP Clinvar 		18152279 573.77 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None ACTL8|0.001905215|91.23%

ACTN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1341863
dbSNP Clinvar 		236883421 478.77 C T PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.92073 0.92070 0.06228 None None None None None None ACTN2|0.55570405|13.49%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1341864
dbSNP Clinvar 		236882303 1047.77 T C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.99261 0.99260 0.00777 None None None None None None ACTN2|0.55570405|13.49%

ADAM15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6427128
dbSNP Clinvar 		155026942 1418.77 A C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.90196 0.90200 0.12771 0.51 0.00 None None None None None None ADAM15|0.077192579|55.85%

ADAMTS4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs33941127
dbSNP Clinvar 		161168004 1164.77 C T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.36502 0.36500 0.25857 None None None None None None ADAMTS4|0.218094914|34.6%,NDUFS2|0.321653173|26.03%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs4233367
dbSNP Clinvar 		161163037 93.77 T C PASS 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.70687 0.70690 0.39720 1.00 0.00 None None None None None None ADAMTS4|0.218094914|34.6%

ADAMTSL4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs10888382
dbSNP Clinvar 		150531008 2704.77 T C PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.81450 0.81450 0.13248 None None None None None None ADAMTSL4|0.034322056|67.68%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs10749657
dbSNP Clinvar 		150531050 3440.77 G A PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.87840 0.87840 0.15647 None None None None None None ADAMTSL4|0.034322056|67.68%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs10749658
dbSNP Clinvar 		150531170 2762.77 C T PASS 1/1 96 None None None 0.92153 0.92150 0.08404 None None None None None None ADAMTSL4|0.034322056|67.68%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs41317515
dbSNP Clinvar 		150526044 4094.77 G C PASS 1/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.52836 0.52840 0.45295 0.61 0.00 None None None None None None ADAMTSL4|0.034322056|67.68%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs76075180
dbSNP Clinvar 		150526393 580.77 G A PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.03235 0.03235 0.00139 0.21 0.00 None None None None None None ADAMTSL4|0.034322056|67.68%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6681639
dbSNP Clinvar 		150526406 1401.77 C T PASS 1/1 41 SYNONYMOUS_CODING LOW None 0.00100 0.00100 0.35545 None None None None None None ADAMTSL4|0.034322056|67.68%

ADAR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1127309
dbSNP Clinvar 		154561925 725.77 C T PASS 0/1 67 SYNONYMOUS_CODING LOW None 0.28095 0.28100 0.29802 None None None None None None ADAR|0.149816666|43.06%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs888016800
dbSNP Clinvar 		154600401 202.77 A C PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ADAR|0.149816666|43.06%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6426859
dbSNP Clinvar 		154600372 1381.77 A G PASS 1/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.98163 0.98160 0.01674 1.00 0.00 None None None None None None ADAR|0.149816666|43.06%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1802645
dbSNP Clinvar 		154575040 1208.77 C T PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.99701 0.99700 0.00285 None None None None None None ADAR|0.149816666|43.06%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1466731
dbSNP Clinvar 		154574820 2024.77 T C PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.99621 0.99620 0.00431 0.28 0.00 None None None None None None ADAR|0.149816666|43.06%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2229857
dbSNP Clinvar 		154573967 2091.77 T C PASS 0/1 154 NON_SYNONYMOUS_CODING MODERATE None 0.62260 0.62260 0.39213 0.67 0.00 None None None None None None ADAR|0.149816666|43.06%

ADCK3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs3738725
dbSNP Clinvar 		227174210 1519.77 T C PASS 0/1 129 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.31390 0.31390 0.44218 None None None None None None ADCK3|0.102470418|50.69%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs12593
dbSNP Clinvar 		227172290 1137.77 C T PASS 0/1 97 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.23862 0.23860 0.37367 None None None None None None ADCK3|0.102470418|50.69%

ADCY10
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs203795
dbSNP Clinvar 		167817639 2037.77 A G PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.82209 0.82210 0.22674 None None None None None None ADCY10|0.02878338|70.03%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs203849
dbSNP Clinvar 		167849414 699.77 A G PASS 0/1 45 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.49321 0.49320 0.46570 None None None None None None ADCY10|0.02878338|70.03%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs117021474
dbSNP Clinvar 		167780071 803.77 C T PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.01118 0.01118 0.00200 0.56 0.92 None None None None None None ADCY10|0.02878338|70.03%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2071921
dbSNP Clinvar 		167825485 1584.77 T C PASS 0/1 141 NON_SYNONYMOUS_CODING MODERATE None 0.50459 0.50460 0.42042 0.11 0.00 None None None None None None ADCY10|0.02878338|70.03%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2071922
dbSNP Clinvar 		167825606 759.77 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.20827 0.20830 0.10618 None None None None None None ADCY10|0.02878338|70.03%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs67878347
dbSNP Clinvar 		167839578 488.77 G A PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.12560 0.12560 0.16116 None None None None None None ADCY10|0.02878338|70.03%

ADORA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs80069893
dbSNP Clinvar 		203134399 753.77 G T PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00069 0.38 0.02 None None None None None None ADORA1|0.36730339|22.93%

ADORA3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2229155
dbSNP Clinvar 		112042632 3767.77 A G PASS 1/1 123 None None None 0.77356 0.77360 0.20998 None None None None None None ADORA3|0.017319131|75.65%

AGL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2230306
dbSNP Clinvar 		100336361 382.77 C T PASS 1/1 15 SYNONYMOUS_CODING LOW None 0.76258 0.76260 0.23289 None None None None None None AGL|0.644094308|10.32%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs17121464
dbSNP Clinvar 		100340787 683.77 G A PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.07967 0.07967 0.00238 0.62 0.00 None None None None None None AGL|0.644094308|10.32%

AGMAT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs3737705
dbSNP Clinvar 		15911349 217.77 G A PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.33766 0.33770 0.23219 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6429757
dbSNP Clinvar 		15909850 220.77 C G PASS 0/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.63319 0.63320 0.34615 1.00 0.00 None None None None None None DNAJC16|0.148396459|43.23%,AGMAT|0.096094359|51.91%

AGO4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs4652895
dbSNP Clinvar 		36316571 1122.77 A C PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.49101 0.49100 0.34253 None None None None None None AGO4|0.5439177|14.04%

AGRN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs4275402
dbSNP Clinvar 		990280 161.77 C T PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.58526 0.58530 0.42085 None None None None None None AGRN|0.026450221|71.13%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs10267
dbSNP Clinvar 		982994 3585.77 T C PASS 1/1 124 SYNONYMOUS_CODING LOW None 0.83586 0.83590 0.20883 None None None None None None AGRN|0.026450221|71.13%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2465128
dbSNP Clinvar 		981931 2510.77 A G PASS 1/1 92 SYNONYMOUS_CODING LOW None 0.79772 0.79770 0.21978 None None None None None None AGRN|0.026450221|71.13%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs9442391
dbSNP Clinvar 		984302 61.77 T C PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.54573 0.54570 0.45863 None None None None None None AGRN|0.026450221|71.13%

AGT
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs7080
dbSNP Clinvar 		230841687 2349.77 T C PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.97264 0.97260 0.05913 None None None None None None AGT|0.061155796|59.54%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs699
dbSNP Clinvar 		230845794 1814.77 A G PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.70507 0.70510 0.43834 1.00 0.00 None None None None None None AGT|0.061155796|59.54%

AHCTF1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2642990
dbSNP Clinvar 		247048834 107.77 T C PASS 0/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.68171 0.68170 0.36973 1.00 0.00 None None None None None None AHCTF1|0.093190661|52.56%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs41304151
dbSNP Clinvar 		247024326 386.77 G A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.02953 0.24 0.00 None None None None None None AHCTF1|0.093190661|52.56%

AHDC1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs181285619
dbSNP Clinvar 		27877392 1441.77 C T PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.00160 0.00160 0.00369 0.11 0.36 None None None None None None AHDC1|0.445284553|18.42%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs4908364
dbSNP Clinvar 		27875824 2205.77 C T PASS 1/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.99800 0.99800 0.00508 1.00 0.00 None None None None None None AHDC1|0.445284553|18.42%

AIM1L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs36024412
dbSNP Clinvar 		26670444 841.77 G T PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.20647 0.20650 0.00 0.98 None None None None None None AIM1L|0.109158012|49.38%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs10751735
dbSNP Clinvar 		26663362 652.77 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.45587 0.45590 0.43907 0.38 0.00 None None None None None None AIM1L|0.109158012|49.38%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs11247919
dbSNP Clinvar 		26664968 544.77 C T PASS 0/1 47 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.28614 0.28610 0.42081 None None None None None None AIM1L|0.109158012|49.38%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs34370465
dbSNP Clinvar 		26670609 931.77 C T PASS 0/1 93 None None None 0.20487 0.20490 0.16 0.99 None None None None None None AIM1L|0.109158012|49.38%

AJAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1061968
dbSNP Clinvar 		4772053 2026.77 T C PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.52676 0.52680 0.41109 None None None None None None AJAP1|0.079694333|55.25%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs242056
dbSNP Clinvar 		4772717 1211.77 G A PASS 0/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.36082 0.36080 0.47593 0.18 0.89 None None None None None None AJAP1|0.079694333|55.25%

AK5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1167206
dbSNP Clinvar 		77763542 827.77 G A PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.97883 0.97880 0.01607 None None None None None None AK5|0.166834889|40.71%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs79671213
dbSNP Clinvar 		78024345 558.73 C CTAT PASS 0/1 23 CODON_INSERTION MODERATE None 0.61961 0.61960 0.35982 None None None None None None AK5|0.166834889|40.71%

AKNAD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs17563390
dbSNP Clinvar 		109394978 1388.77 G A PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.12500 0.12500 0.14624 None None None None None None AKNAD1|0.003173142|88.35%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs7551421
dbSNP Clinvar 		109369915 509.77 G T PASS 0/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.50320 0.50320 0.38504 1.00 0.00 None None None None None None AKNAD1|0.003173142|88.35%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1277207
dbSNP Clinvar 		109395105 1503.77 C T PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE None 0.86701 0.86700 0.16677 0.61 0.00 None None None None None None AKNAD1|0.003173142|88.35%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1333130
dbSNP Clinvar 		109363232 318.77 T C PASS 1/1 11 SYNONYMOUS_CODING LOW None 0.38638 0.38640 0.24596 None None None None None None AKNAD1|0.003173142|88.35%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs17030016
dbSNP Clinvar 		109394564 1046.77 T C PASS 0/1 106 SYNONYMOUS_CODING LOW None 0.07648 0.07648 0.06512 None None None None None None AKNAD1|0.003173142|88.35%

AKR7A3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2231198
dbSNP Clinvar 		19612477 1312.77 C T PASS 1/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.46326 0.46330 0.36344 0.07 0.05 None None None None None None AKR7A3|0.013654573|78.1%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1738023
dbSNP Clinvar 		19611241 2564.77 T C PASS 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.80771 0.80770 0.22634 1.00 0.00 None None None None None None AKR7A3|0.013654573|78.1%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1738025
dbSNP Clinvar 		19609254 3123.77 T C PASS 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.83147 0.83150 0.20268 1.00 0.00 None None None None None None AKR7A3|0.013654573|78.1%

AKR7L
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6665756
dbSNP Clinvar 		19596156 1054.77 G T PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.66594 0.66590 0.40539 None None None None None None AKR7L|0.018209366|75.16%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2235794
dbSNP Clinvar 		19596124 823.77 C T PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.66494 0.66490 0.40605 0.00 0.99 None None None None None None AKR7L|0.018209366|75.16%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2235795
dbSNP Clinvar 		19595137 2396.77 C T PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.66514 0.66510 0.41166 0.17 0.11 None None None None None None AKR7L|0.018209366|75.16%

AL020996.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs984412
dbSNP Clinvar 		26146884 1051.77 C G PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.79253 0.79250 0.00 None None None None None None MTFR1L|0.316651874|26.32%

ALDH4A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2230708
dbSNP Clinvar 		19201956 2146.77 A G PASS 1/1 71 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.73722 0.73720 0.29779 None None None None None None ALDH4A1|0.121498662|47.22%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2230705
dbSNP Clinvar 		19203997 377.77 C G PASS 0/1 46 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64157 0.64160 0.28846 None None None None None None ALDH4A1|0.121498662|47.22%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2230706
dbSNP Clinvar 		19202926 850.77 T C PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.66014 0.66010 0.37865 None None None None None None ALDH4A1|0.121498662|47.22%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs7550938
dbSNP Clinvar 		19202917 918.77 T C PASS 1/1 32 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.66094 0.66090 0.37698 None None None None None None ALDH4A1|0.121498662|47.22%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs2230707
dbSNP Clinvar 		19202896 390.77 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.51597 0.51600 0.45471 None None None None None None ALDH4A1|0.121498662|47.22%

ALDH9A1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1143659
dbSNP Clinvar 		165652273 974.77 A G PASS 0/1 75 SYNONYMOUS_CODING LOW None 0.74621 0.74620 0.34984 None None None None None None ALDH9A1|0.055569137|61.04%

ALG6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs4630153
dbSNP Clinvar 		63881552 302.77 C T PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.83047 0.83050 0.26300 0.32 0.00 None None None None None None ALG6|0.211927647|35.38%

ALPL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs1780316
dbSNP Clinvar 		21889635 1810.77 T C PASS 1/1 58 SYNONYMOUS_CODING LOW None 0.92951 0.92950 0.07827 None None None None None None ALPL|0.999977593|0.11%

AMPD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs34526199
dbSNP Clinvar 		115222237 718.77 T A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.01098 0.01098 0.02414 0.00 1.00 None None None None None None AMPD1|0.217023192|34.75%

AMPD2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs863978
dbSNP Clinvar 		110170896 2202.77 T C PASS 1/1 70 SYNONYMOUS_CODING LOW None 0.80771 0.80770 0.31578 None None None None None None AMPD2|0.183477715|38.6%

ANGPTL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6689778
dbSNP Clinvar 		178834231 903.77 T C PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.05651 0.05651 0.06351 None None None None None None RALGPS2|0.494608856|16.1%,ANGPTL1|0.276747246|29.39%

ANKRD35
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 . 145562199 692.77 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None None None None None None None ANKRD35|0.119527049|47.52%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs10910824
dbSNP Clinvar 		145562881 364.77 T C PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.58886 0.58890 0.45574 None None None None None None ANKRD35|0.119527049|47.52%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs11579366
dbSNP Clinvar 		145562293 1001.77 G C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.33906 0.33910 0.48239 0.02 0.60 None None None None None None ANKRD35|0.119527049|47.52%
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs6670984
dbSNP Clinvar 		145561594 2028.77 C T PASS 0/1 176 NON_SYNONYMOUS_CODING MODERATE None 0.56470 0.56470 0.42204 0.52 0.00 None None None None None None ANKRD35|0.119527049|47.52%

ANKRD45
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View ctr0100487_mex076_alain_mancinas_201814015100_pass 1 rs75071004
dbSNP Clinvar 		173628546 521.77 T A PASS 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00899 0.00899 0.00923 0.02 0.00 None None None None None None ANKRD45|0.029016199|69.86%