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Genes:
AAMDC, ABCC8, ABTB2, ACAD8, ACCS, ACCSL, ACER3, ACP2, ACTN3, ADAMTS15, ADAMTS8, ADRBK1, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG9, ALKBH3, ALKBH8, ALX4, AMICA1, AMPD3, ANGPTL5, ANKK1, ANKRD13D, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP000679.2, AP000867.1, AP000889.3, AP000974.1, AP001024.1, AP003062.1, AP003068.23, AP2A2, AP5B1, APIP, APLNR, APOA4, ARAP1, ARCN1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGEF12, ARHGEF17, ARNTL, ART1, ART5, ASCL2, ASCL3, ATG16L2, ATG2A, ATHL1, ATM, B3GNT1, B3GNT6, B4GALNT4, BACE1, BBOX1, BCL9L, BCO2, BDNF, BEST1, BRMS1, BSCL2, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf35, C11orf40, C11orf42, C11orf48, C11orf49, C11orf52, C11orf53, C11orf68, C11orf72, C11orf80, C11orf82, C11orf84, C11orf89, C11orf96, C2CD3, CABP2, CADM1, CALCA, CAPN1, CAPN5, CARD16, CARNS1, CARS, CASP1, CASP12, CASP4, CASP5, CATSPER1, CCDC153, CCDC179, CCDC67, CCDC73, CCDC81, CCDC82, CCDC83, CCDC86, CCDC87, CCDC90B, CCKBR, CCND1, CD151, CD3E, CD44, CD5, CD6, CD82, CDC42BPG, CDCA5, CDHR5, CDON, CEP164, CFL1, CHEK1, CHID1, CHRDL2, CHRM4, CHRNA10, CHST1, CLCF1, CNTN5, COLCA2, CPSF7, CPT1A, CREB3L1, CREBZF, CRTAM, CSNK2A3, CST6, CTNND1, CTR9, CTSC, CTSD, CTSF, CTSW, CTTN, CWC15, CWF19L2, CYB5R2, CYP2R1, DAK, DCDC1, DCHS1, DCPS, DDB1, DDB2, DDX25, DEFB108B, DENND5A, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DNAJB13, DNHD1, DPP3, DRD2, DSCAML1, DYNC2H1, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EI24, EIF4G2, ELF5, EML3, ENDOD1, EPS8L2, ESRRA, EXPH5, FADS2, FAM111B, FAM160A2, FAM168A, FAM180B, FAM86C1, FAR1, FAT3, FAU, FCHSD2, FDXACB1, FERMT3, FKBP2, FLRT1, FNBP4, FOSL1, FOXR1, FRMD8, FSHB, GAB2, GAL3ST3, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GRIA4, GRIK4, GRM5, GSTP1, GYLTL1B, HBG1, HEPACAM, HEPHL1, HEPN1, HINFP, HMBS, HPS5, HPX, HRAS, HRASLS5, HSPB2, HTATIP2, HTR3B, HYOU1, IFITM1, IFITM10, IFITM3, IFITM5, IFT46, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, ILK, INCENP, INS, INS-IGF2, INSC, INTS4, IPO7, IRF7, KCNA4, KCNJ11, KCNJ5, KCNK4, KCTD14, KDM2A, KDM4E, KIAA1377, KIAA1731, KIF18A, KIRREL3, KLC2, KLHL35, KRTAP5-1, KRTAP5-10, KRTAP5-4, KRTAP5-5, KRTAP5-8, KRTAP5-9, LDHA, LDHAL6A, LDHC, LGR4, LIPT2, LMO1, LMO2, LPXN, LRFN4, LRP4, LRP5, LRRC32, LRRC4C, LRRC56, LSP1, LUZP2, MACROD1, MADD, MAML2, MAP6, ME3, MED17, MEN1, METTL12, MFRP, MICAL2, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP8, MOB2, MOGAT2, MPEG1, MPZL3, MRGPRD, MRGPRE, MRGPRF, MRGPRX1, MRGPRX3, MRGPRX4, MRPL11, MRPL23, MRPL49, MRVI1, MS4A10, MS4A13, MS4A14, MS4A15, MS4A3, MS4A4A, MS4A5, MS4A6A, MS4A6E, MS4A7, MTCH2, MTL5, MTNR1B, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NDUFC2, NDUFS3, NELL1, NEU3, NFRKB, NLRP14, NLRP6, NLRX1, NOX4, NPAT, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUP160, NUP98, NXF1, NXPE2, OAF, ODF3, OLFML1, OR10A2, OR10A6, OR10Q1, OR10V1, OR1S1, OR2AG1, OR2AG2, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4B1, OR4C12, OR4C15, OR4C16, OR4C3, OR4C46, OR4C5, OR4D11, OR4D6, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51E2, OR51F1, OR51F2, OR51G1, OR51H1P, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51S1, OR51V1, OR52A1, OR52B1P, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E8, OR52H1, OR52I1, OR52J3, OR52L1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56B1, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AR1, OR5AS1, OR5B12, OR5B2, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5I1, OR5M1, OR5M10, OR5M11, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6M1, OR6Q1, OR6X1, OR8A1, OR8B2, OR8B3, OR8B4, OR8G1, OR8H1, OR8H2, OR8J1, OR8K1, OR8K3, OR8U1, OR9G1, OR9G4, OR9Q2, OSBPL5, OTOG, OVCH2, P2RX3, P2RY2, PAAF1, PACS1, PAFAH1B2, PANX1, PARVA, PATE1, PCF11, PCNXL3, PCSK7, PDDC1, PDE2A, PDE3B, PDGFD, PDHX, PDZD3, PEX16, PGR, PHLDB1, PHRF1, PICALM, PIDD, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKP3, PLCB3, PLEKHA7, PLET1, PNPLA2, POLD3, POLR2L, POU2F3, PPFIA1, PPFIBP2, PPP1R32, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PRRG4, PSMD13, PTGDR2, PTH, PTPN5, PTPRJ, PUS3, PVRL1, PYGM, QSER1, RAB38, RAB3IL1, RAD9A, RAG1, RAPSN, RARRES3, RASSF7, RBMXL2, RCN1, RCOR2, RELA, RELT, RHOD, RIC3, RIC8A, RIN1, RNF141, RNF169, RNF26, RNH1, ROBO3, ROM1, RP11-113D6.6, RP11-794P6.2, RP11-849H4.2, RPUSD4, RRM1, RRP8, RSF1, RTN3, SAA1, SAA2, SAA4, SAC3D1, SART1, SCGB1C1, SCGB1D2, SCUBE2, SDHAF2, SERGEF, SERPINH1, SF3B2, SHANK2, SIGIRR, SIK2, SIK3, SIPA1, SIRT3, SLC15A3, SLC1A2, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A8, SLC22A9, SLC25A45, SLC37A4, SLC39A13, SLC3A2, SLC5A12, SLC6A5, SLCO2B1, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SORL1, SPA17, SPATA19, SPCS2, SPI1, SPTBN2, SRSF8, ST14, ST3GAL4, ST5, STIM1, STK33, STT3A, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TAF10, TAF1D, TBC1D10C, TBCEL, TBX10, TCIRG1, TCN1, TCP11L1, TECTA, TENM4, TEX12, TH, TIRAP, TM7SF2, TMEM109, TMEM132A, TMEM135, TMEM216, TMEM225, TMEM25, TMEM80, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TP53I11, TPCN2, TREH, TRIM22, TRIM29, TRIM49B, TRIM49C, TRIM5, TRIM51, TRIM6, TRIM6-TRIM34, TRIM64B, TRIM64C, TRIM66, TRPM5, TSG101, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TTC17, TTC9C, TUB, TYR, UBASH3B, UBE2L6, UBQLN3, UBQLNL, UCP2, UCP3, UEVLD, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VEGFB, VPS11, VPS51, WT1, ZBTB3, ZC3H12C, ZDHHC13, ZFP91, ZNF143, ZNF202, ZNF214, ZNF215, ZNHIT2, ZP1,

Genes at Omim

ABCC8, ACAD8, ACER3, ACP2, ACTN3, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, ARCN1, ATM, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CAPN5, CASP12, CATSPER1, CCND1, CD151, CD3E, CD44, CDON, CEP164, CLCF1, CPT1A, CREB3L1, CTNND1, CTSC, CTSD, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DENND5A, DHCR7, DLAT, DNAJB13, DYNC2H1, EFEMP2, EPS8L2, EXPH5, FAM111B, FAR1, FERMT3, FSHB, GRIA4, HBG1, HEPACAM, HMBS, HPS5, HRAS, HYOU1, IFITM3, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNA4, KCNJ11, KCNJ5, KLC2, LDHA, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MTNR1B, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NDUFS3, NUP160, OTOG, PACS1, PDHX, PEX16, PGR, PICALM, PNPLA2, PTH, PTPRJ, PUS3, PYGM, RAG1, RAPSN, RELA, ROBO3, ROM1, SDHAF2, SERPINH1, SHANK2, SIK3, SLC1A2, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TPCN2, TREH, TUB, TYR, UCP2, UCP3, UNC93B1, USH1C, VPS11, WT1, ZP1,
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
ACAD8 Isobutyryl-CoA dehydrogenase deficiency, 611283 (3)
ACER3 ?Leukodystrophy, progressive, early childhood-onset, 617762 (3)
ACP2 ?Lysosomal acid phosphatase deficiency, 200950 (1)
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
AIP Pituitary adenoma 1, multiple types, 102200 (3)
Pituitary adenoma predisposition, 102200 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANO3 Dystonia 24, 615034 (3)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
BSCL2 Lipodystrophy, congenital generalized, type 2, 269700 (3)
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Silver spastic paraplegia syndrome, 270685 (3)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CAPN1 Spastic paraplegia 76, autosomal recessive, 616907 (3)
CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 (3)
CASP12 {Sepsis, susceptibility to} (3)
CATSPER1 Spermatogenic failure 7, 612997 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD3E Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
CD44 [Blood group, Indian system], 609027 (3)
CDON Holoprosencephaly 11, 614226 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CLCF1 Cold-induced sweating syndrome 2, 610313 (3)
CPT1A CPT deficiency, hepatic, type IA, 255120 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CTNND1 Blepharocheilodontic syndrome 2, 617681 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (3)
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
CTSF Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DCPS Al-Raqad syndrome, 616459 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DENND5A Epileptic encephalopathy, early infantile, 49, 617281 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EPS8L2 Deafness autosomal recessive 106, 617637 (3)
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
FAM111B Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)
FAR1 Peroxisomal fatty acyl-CoA reductase 1 disorder, 616154 (3)
FERMT3 Leukocyte adhesion deficiency, type III, 612840 (3)
FSHB Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)
GRIA4 Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3)
HBG1 Fetal hemoglobin quantitative trait locus 1, 141749 (3)
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HMBS Porphyria, acute intermittent, 176000 (3)
Porphyria, acute intermittent, nonerythroid variant, 176000 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
HYOU1 ?Immunodeficiency 59 and hypoglycemia, 233600 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IFITM5 Osteogenesis imperfecta, type V, 610967 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
INS Hyperproinsulinemia, 616214 (3)
Diabetes mellitus, insulin-dependent, 2, 125852 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Maturity-onset diabetes of the young, type 10, 613370 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
KCNA4 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3)
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ5 Hyperaldosteronism, familial, type III, 613677 (3)
Long QT syndrome 13, 613485 (3)
KLC2 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
LDHA Glycogen storage disease XI, 612933 (3)
LGR4 {Bone mineral density, low, susceptibility to}, 615311 (3)
LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
LMO1 Leukemia, T-cell acute lymphoblastic (2)
LMO2 Leukemia, acute T-cell (2)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
LRRC56 Ciliary dyskinesia, primary, 39, 618254 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MFRP Microphthalmia, isolated 5, 611040 (3)
Nanophthalmos 2, 609549 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20 Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MTNR1B {Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
MYRF Cardiac-urogenital syndrome, 618280 (3)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
NDUFS3 Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)
NUP160 ?Nephrotic syndrome, type 19, 618178 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
PACS1 Schuurs-Hoeijmakers syndrome, 615009 (3)
PDHX Lacticacidemia due to PDX1 deficiency, 245349 (3)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
PGR ?Progesterone resistance, 264080 (2)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PTH Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
PUS3 Mental retardation, autosomal recessive 55, 617051 (3)
PYGM McArdle disease, 232600 (3)
RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
Combined cellular and humoral immune defects with granulomas, 233650 (3)
Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
RELA ?Mucocutaneous ulceration, chronic, 618287 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SDHAF2 Paragangliomas 2, 601650 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SIK3 ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
SLC1A2 Epileptic encephalopathy, early infantile, 41, 617105 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14 Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1 Immunodeficiency 10, 612783 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Stormorken syndrome, 185070 (3)
STT3A ?Congenital disorder of glycosylation, type Iw, 615596 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
TENM4 Essential tremor, hereditary, 5, 616736 (3)
TH Segawa syndrome, recessive, 605407 (3)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (3)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TREH Trehalase deficiency, 612119 (3)
TUB ?Retinal dystrophy and obesity, 616188 (3)
TYR Albinism, oculocutaneous, type IA, 203100 (3)
Albinism, oculocutaneous, type IB, 606952 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
Waardenburg syndrome/albinism, digenic, 103470 (3)
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
UCP2 {Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)
WT1 Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAD8, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, ATM, BDNF, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CAPN5, CD151, CD3E, CD44, CDON, CEP164, CLCF1, CPT1A, CREB3L1, CTSC, CTSD, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DHCR7, DLAT, DRD2, DYNC2H1, EFEMP2, EXPH5, FAM111B, FAR1, FERMT3, FSHB, GRIK4, HBG1, HEPACAM, HMBS, HPS5, HRAS, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNJ11, KCNJ5, KIRREL3, KLC2, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP20, MYBPC3, MYO7A, NARS2, NDUFS3, NPAT, OTOG, PACS1, PDHX, PEX16, PNPLA2, PTH, PYGM, RAG1, RAPSN, ROBO3, ROM1, SDHAF2, SERPINH1, SHANK2, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TUB, TYR, UNC93B1, USH1C, VPS11, WT1, ZP1,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
ACAD8 Isobutyryl-CoA dehydrogenase deficiency
AIP Pituitary adenoma, familial isolated
ALG9 Congenital disorder of glycosylation, type Il
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
AMPD3 Erythrocytic AMP deaminase deficiency
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ANO5 Gnathodiaphyseal dysplasia
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BDNF Central hypoventilation syndrome, congenital
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
BSCL2 Lipodystrophy, congenital generalized, type 2
Encephalopathy, progressive, with or without lipodystrophy
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAPN1 Spastic paraplegia 76, autosomal recessive
CAPN5 Vitreoretinopathy, neovascular inflammatory
CD151 Raph blood group
CD3E Immunodeficiency 18
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
CLCF1 Cold-induced sweating syndrome 2
CPT1A Carnitine palmitoyltransferase deficiency I
CREB3L1 Osteogenesis imperfecta, type XVI
CTSC Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
CTSD Ceroid lipofuscinosis, neuronal, 10
CTSF Neuronal ceroid lipofuscinosis 13
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DCHS1 Mitral valve prolapse 2
DCPS Al-Raqad syndrome
DDB2 Xeroderma pigmentosum, group E
DHCR7 Smith-Lemli-Opitz syndrome
DLAT Pyruvate dehydrogenase E2 deficiency
DRD2 Myoclonic dystonia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2 Cutis laxa, autosomal recessive type IB
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
FAM111B Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
FAR1 Peroxisomal fatty acyl-CoA reductase 1 disorder
FERMT3 Leukocyte adhesion deficiency, type III
FSHB Hypogonadotropic hypogonadism 24 without anosmia
GRIK4 Response to antidepressant treatment with citalopram
HBG1 Hereditary persistence of fetal hemoglobin
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Megalencephalic leukoencephalopathy with subcortical cysts 2A
HMBS Hydroxymethylbilane synthase deficiency
Porphyria, acute intermittent
HPS5 Hermansky-Pudlak syndrome 5
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
IFITM5 Osteogenesis imperfecta, type V
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IL10RA Inflammatory bowel disease 28, autosomal recessive
INS Diabetes mellitus, permanent neonatal
IRF7 Immunodeficiency 39
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2
Diabetes mellitus, transient neonatal, 3
Diabetes, permanent neonatal
Diabetes, permanent neonatal, with Neurologic features
KCNJ5 Long QT syndrome 13
Hyperaldosteronism, familial, type III
KIRREL3 Mental retardation, autosomal dominant 4
KLC2 Spastic paraplegia, optic atrophy, and neuropathy
LDHA Glycogen storage disease XI
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MFRP Microphthalmia, isolated 5
Nanophthalmos 2
Retinitis pigmentosa, autosomal recessive
MMP20 Amelogenesis imperfecta, hypomaturation type, IIA2
MYBPC3 Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated, 1MM
Left ventricular noncompaction 10
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
NARS2 Combined oxidative phosphorylation deficiency 24
NDUFS3 Mitochondrial complex I deficiency
Leigh syndrome
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
OTOG Deafness, autosomal recessive 18B
PACS1 Mental retardation, autosomal dominant 17
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
PNPLA2 Neutral lipid storage disease with myopathy
PTH Hypoparathyroidism, familial isolated
PYGM Glycogen storage disease V
RAG1 T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency
Omenn syndrome
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Combined cellular and humoral immune defects with granulomas
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
SDHAF2 Paragangliomas 2
SERPINH1 Osteogenesis imperfecta, type X
SHANK2 Autism, susceptibility to 17
SLC22A12 Hypouricemia, renal 1
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5 Hyperekplexia 3
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
ST14 Ichthyosis, congenital, autosomal recessive 11
STIM1 Stormorken syndrome
Immunodeficiency 10
STT3A Congenital disorder of glycosylation, type Iw
TCIRG1 Osteopetrosis, autosomal recessive 1
TECTA Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
TENM4 Tremor, hereditary essential, 5
TH Segawa syndrome, autosomal recessive
TMEM216 Joubert syndrome 2
Meckel syndrome 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TUB Retinal dystrophy and obesity
TYR Albinism, oculocutaneous, type IA
Albinism, oculocutaneous, type IB
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
USH1C Usher syndrome, type IC
Deafness, autosomal recessive 18A
VPS11 Leukodystrophy, hypomyelinating 12
WT1 Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome
ZP1 Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 3947
Number of Genes: 698

Export to: CSV

AAMDC

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs585721
dbSNP Clinvar
77553638 787.77 T C . 0/1 52 SYNONYMOUS_CODING LOW None 0.39078 0.39080 0.42036 None None None None None None AAMDC|0.466531332|17.33%
View mp91583 both 11 rs60400274,rs397702235
dbSNP Clinvar
77629132 1362.73 A AT . 1/1 33 None None None 0.72963 0.72960 None None None None None None AAMDC|0.466531332|17.33%,INTS4|0.13856273|44.61%

ABCC8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs1048099
dbSNP Clinvar
17496516 3360.77 A G . 1/1 109 SYNONYMOUS_CODING LOW None 0.43930 0.43930 0.47682 None None None None None None ABCC8|0.967482639|1.79%
View mp91583 both 11 rs757110
dbSNP Clinvar
17418477 800.77 C A . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.72644 0.72640 0.26144 0.63 0.00 None None None None None None ABCC8|0.967482639|1.79%
View mp91583 both 11 rs1799858
dbSNP Clinvar
17449929 1103.77 C T . 0/1 95 SYNONYMOUS_CODING LOW None 0.20208 0.20210 0.15671 None None None None None None ABCC8|0.967482639|1.79%
View mp91583 both 11 rs1799857
dbSNP Clinvar
17452492 949.77 G A . 0/1 65 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%

ABTB2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs1925368
dbSNP Clinvar
34378381 1394.77 G C . 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.17891 0.17890 0.12564 0.61 0.00 None None None None None None ABTB2|0.266367943|30.16%

ACAD8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs7943666
dbSNP Clinvar
134131509 919.77 A G . 0/1 53 None None None 0.05391 0.05391 None None None None None None ACAD8|0.093005193|52.61%

ACCS

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs3107275
dbSNP Clinvar
44104981 1062.77 C T . 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.40375 0.40380 0.41512 0.23 0.03 None None None None None None ACCS|0.034927707|67.49%
View mp91583 both 11 rs7950395
dbSNP Clinvar
44101118 414.77 C T . 0/1 29 SYNONYMOUS_CODING LOW None 0.11422 0.11420 0.13063 None None None None None None ACCS|0.034927707|67.49%

ACCSL

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs2074051
dbSNP Clinvar
44080210 818.77 T C . 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.79433 0.79430 0.20556 1.00 0.00 None None None None None None ACCSL|0.002111959|90.7%

ACER3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs4379869
dbSNP Clinvar
76637651 1073.77 G A . 1/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.29506 1.00 0.00 None None None None None None ACER3|0.282744715|28.9%
View mp91583 both 11 rs4479014
dbSNP Clinvar
76637680 1225.77 G A . 1/1 39 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.41728 None None None None None None ACER3|0.282744715|28.9%
View mp91583 both 11 rs3740767
dbSNP Clinvar
76701606 1169.77 G A . 1/1 36 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.40072 None None None None None None ACER3|0.282744715|28.9%

ACP2

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs2167079
dbSNP Clinvar
47270255 735.77 C T . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.51697 0.51700 0.37987 0.89 0.00 None None None None None None ACP2|0.186646535|38.21%,NR1H3|0.14717228|43.45%

ACTN3

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs618838
dbSNP Clinvar
66328719 1362.77 T C . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.60024 0.60020 0.36450 1.00 0.00 None None None None None None None
View mp91583 both 11 rs540874
dbSNP Clinvar
66329732 1367.77 A G . 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37179 1.00 0.00 None None None None None None None
View mp91583 both 11 rs144427563
dbSNP Clinvar
66329024 1545.77 T C . 0/1 94 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00016 None None None None None None None
View mp91583 both 11 rs1671064
dbSNP Clinvar
66327673 2472.77 G A . 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.58646 0.58650 0.36660 1.00 0.00 None None None None None None None
View mp91583 both 11 rs1815739
dbSNP Clinvar
66328095 1520.77 T C . 1/1 46 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None

ADAMTS15

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs731446
dbSNP Clinvar
130339312 575.77 T C . 0/1 40 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.33033 None None None None None None ADAMTS15|0.184066185|38.46%

ADAMTS8

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs7927048
dbSNP Clinvar
130297948 975.77 C G . 0/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.46925 0.46920 0.39489 0.56 0.01 None None None None None None ADAMTS8|0.042125202|65.07%
View mp91583 both 11 rs61753089
dbSNP Clinvar
130275533 384.77 C T . 0/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.00300 0.00300 0.00538 0.00 0.05 None None None None None None ADAMTS8|0.042125202|65.07%
View mp91583 both 11 rs7942034
dbSNP Clinvar
130297957 2368.77 T C . 1/1 73 SYNONYMOUS_CODING LOW None 0.91374 0.91370 0.11270 None None None None None None ADAMTS8|0.042125202|65.07%
View mp91583 both 11 rs11222085
dbSNP Clinvar
130275749 1730.77 T C . 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.08387 0.08387 0.13278 0.13 0.01 None None None None None None ADAMTS8|0.042125202|65.07%

ADRBK1

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs2228418
dbSNP Clinvar
67034266 653.77 C A . 0/1 49 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGBL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs12286721
dbSNP Clinvar
47701528 510.77 C A . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.43045 0.07 0.00 None None None None None None AGBL2|0.048331714|63.19%

AHNAK

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs61524789
dbSNP Clinvar
62295149 3462.77 T G . 0/1 224 NON_SYNONYMOUS_CODING MODERATE None 0.02955 0.02955 0.02930 0.03 0.99 None None None None None None AHNAK|0.340600581|24.81%
View mp91583 both 11 rs566144
dbSNP Clinvar
62292882 10667.77 G T . 1/1 318 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None AHNAK|0.340600581|24.81%

AIP

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs641081
dbSNP Clinvar
67257823 2214.77 C A . 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.84545 0.84540 0.16574 1.00 0.00 None None None None None None AIP|0.191995289|37.6%
View mp91583 both 11 rs4930199
dbSNP Clinvar
67258391 2038.77 A G . 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None AIP|0.191995289|37.6%

AKIP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs1133833
dbSNP Clinvar
8933064 2051.77 G A . 1/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.12061 0.12060 0.18627 0.22 0.09 None None None None None None AKIP1|0.01527686|76.95%
View mp91583 both 11 rs2016844
dbSNP Clinvar
8938934 1610.77 C T . 1/1 51 None None None 0.26717 0.26720 0.27951 0.01 0.00 None None None None None None AKIP1|0.01527686|76.95%

ALDH3B1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 2891.73 G GC . 1/1 75 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%
View mp91583 both 11 rs11433668,rs397777471
dbSNP Clinvar
67786064 1702.73 A AC . 1/1 41 None None None 1.00000 1.00000 0.00224 None None None None None None ALDH3B1|0.033093329|68.12%
View mp91583 both 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 4793.73 G GC . 1/1 117 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%
View mp91583 both 11 rs308341
dbSNP Clinvar
67795299 1286.77 G A . 0/1 92 SYNONYMOUS_CODING LOW None 0.24760 0.24760 0.24310 None None None None None None ALDH3B1|0.033093329|68.12%
View mp91583 both 11 rs3751082
dbSNP Clinvar
67795353 1139.77 G A . 0/1 77 SYNONYMOUS_CODING LOW None 0.17832 0.17830 0.16968 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH3B2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs1551888
dbSNP Clinvar
67433869 3170.77 C T . 1/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.15022 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View mp91583 both 11 rs1551886
dbSNP Clinvar
67430762 2738.77 T C . 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.86801 0.86800 0.14960 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View mp91583 both 11 rs113012592
dbSNP Clinvar
67432798 1582.77 C T . 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.00599 0.00599 0.00454 0.00 0.94 None None None None None None ALDH3B2|0.012437844|78.93%
View mp91583 both 11 rs2447571
dbSNP Clinvar
67432804 3531.77 T C . 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00023 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View mp91583 both 11 rs142189245
dbSNP Clinvar
67433012 1362.77 G A . 0/1 111 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00100 None None None None None None ALDH3B2|0.012437844|78.93%
View mp91583 both 11 rs148026822
dbSNP Clinvar
67433023 1331.77 C T . 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.00639 0.00639 0.00462 0.00 0.08 None None None None None None ALDH3B2|0.012437844|78.93%
View mp91583 both 11 rs112071378
dbSNP Clinvar
67434073 855.77 C T . 0/1 69 SYNONYMOUS_CODING LOW None 0.00599 0.00599 0.00447 None None None None None None ALDH3B2|0.012437844|78.93%

ALG9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View mp91583 both 11 rs10502151
dbSNP Clinvar
111724133 559.77 C T . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.32648 0.32650 0.26369 0.06 0.79 None None None None None None ALG9|0.352156163|23.94%
View mp91583 both 11 rs10708475
dbSNP Clinvar
111742145 1447.73 CG C . 1/1 33 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALKBH3

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 mp91583 both 11 rs1130290
dbSNP Clinvar
43940602 393.77 C G . 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.13898 0.13900 0.20575 0.02 0.78 None None None None None None ALKBH3|0.085956572|53.95%

ALKBH8

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 mp91583 both 11 rs645056
dbSNP Clinvar
107420530 1544.77 A G . 1/1 44 SYNONYMOUS_CODING LOW None 0.71146 0.71150 0.22383 None None None None None None ALKBH8|0.091746155|52.88%

ALX4

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 mp91583 both 11 rs3802805
dbSNP Clinvar
44286566 1089.77 G A . 0/1 102 SYNONYMOUS_CODING LOW None 0.35843 0.35840 0.27461 None None None None None None ALX4|0.690991356|8.75%
View mp91583 both 11 rs3824915
dbSNP Clinvar
44331509 2082.77 C G . 1/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.42421 0.00 0.12 None None None None None None ALX4|0.690991356|8.75%
View mp91583 both 11 rs10769028
dbSNP Clinvar
44297054 5529.77 T C . 1/1 166 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%

AMICA1

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 mp91583 both 11 rs17121881
dbSNP Clinvar
118081345 873.77 A T . 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.46745 0.46750 0.44735 0.00 0.70 None None None None None None AMICA1|0.006975482|83.52%
View mp91583 both 11 rs1793174
dbSNP Clinvar
118074337 1835.77 A G . 0/1 93 NON_SYNONYMOUS_CODING MODERATE None 0.80252 0.80250 0.19266 0.54 0.02 None None None None None None AMICA1|0.006975482|83.52%

AMPD3

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 mp91583 both 11 rs3741041
dbSNP Clinvar
10521764 841.77 T C . 0/1 76 SYNONYMOUS_CODING LOW None 0.36741 0.36740 0.31447 None None None None None None AMPD3|0.504907229|15.58%

ANGPTL5

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 mp91583 both 11 rs77315074
dbSNP Clinvar
101765654 341.77 G A . 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.02117 0.02117 0.03023 0.10 0.61 None None None None None None ANGPTL5|0.084272942|54.36%
View mp91583 both 11 rs3858418
dbSNP Clinvar
101771248 1528.77 G A . 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00492 1.00 0.00 None None None None None None ANGPTL5|0.084272942|54.36%

ANKK1

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 mp91583 both 11 rs7118900
dbSNP Clinvar
113266821 1071.77 G A . 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.32049 0.32050 0.22305 0.06 0.25 None None None None None None ANKK1|0.031328783|68.87%
View mp91583 both 11 rs1800497
dbSNP Clinvar
113270828 727.77 G A . 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.32568 0.32570 0.23539 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%
View mp91583 both 11 rs2734848
dbSNP Clinvar
113270374 883.77 C T . 0/1 51 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%
View mp91583 both 11 rs4938016
dbSNP Clinvar
113270015 1250.77 G C . 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.54930 0.37520 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%

ANKRD13D

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 mp91583 both 11 rs2298815
dbSNP Clinvar
67068859 1888.77 T C . 0/1 123 SYNONYMOUS_CODING LOW None 0.89477 0.89480 0.09199 None None None None None None ANKRD13D|0.070594446|57.34%

ANKRD49

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 mp91583 both 11 rs2509943
dbSNP Clinvar
94231257 1083.77 C G . 0/1 67 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.41022 None None None None None None ANKRD49|0.0717867|57.04%

ANO1

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 mp91583 both 11 rs34064841
dbSNP Clinvar
70034026 698.77 G A . 0/1 70 SYNONYMOUS_CODING LOW None 0.01098 0.01098 0.02300 None None None None None None ANO1|0.129436977|45.95%
View mp91583 both 11 rs2276066
dbSNP Clinvar
70007311 1247.77 A G . 1/1 37 SYNONYMOUS_CODING LOW None 0.60324 0.60320 0.41343 None None None None None None ANO1|0.129436977|45.95%
View mp91583 both 11 rs2276067
dbSNP Clinvar
70007392 1827.77 A G . 1/1 56 SYNONYMOUS_CODING LOW None 0.65815 0.65810 0.36090 None None None None None None ANO1|0.129436977|45.95%

ANO3

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 mp91583 both 11 rs2663168
dbSNP Clinvar
26568966 1737.77 A G . 1/1 47 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.34930 None None None None None None ANO3|0.315688772|26.37%
View mp91583 both 11 rs7946841
dbSNP Clinvar
26656563 625.77 C T . 0/1 48 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.35535 None None None None None None ANO3|0.315688772|26.37%
View mp91583 both 11 rs10835051
dbSNP Clinvar
26677947 1202.77 C T . 1/1 34 SYNONYMOUS_CODING LOW None 0.55851 0.55850 0.43894 None None None None None None ANO3|0.315688772|26.37%

ANO5

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 mp91583 both 11 rs7481951
dbSNP Clinvar
22271870 849.77 A T . 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.44864 0.11 0.02 None None None None None None ANO5|0.057436384|60.57%
View mp91583 both 11 rs4312063
dbSNP Clinvar
22242729 1351.77 T C . 1/1 44 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%

ANO9

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 mp91583 both 11 rs7395065
dbSNP Clinvar
433387 3663.77 A G . 1/1 111 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ANO9|0.005315208|85.4%
View mp91583 both 11 rs10794323
dbSNP Clinvar
428385 555.77 A G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.92173 0.92170 0.15092 0.40 0.00 None None None None None None ANO9|0.005315208|85.4%
View mp91583 both 11 rs10794324
dbSNP Clinvar
428489 1212.77 T C . 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.91893 0.91890 0.16818 1.00 0.00 None None None None None None ANO9|0.005315208|85.4%

AP000679.2

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 mp91583 both 11 rs7949789
dbSNP Clinvar
120041110 5901.77 T A . 1/1 175 NON_SYNONYMOUS_CODING MODERATE None 0.34924 0.34920 0.89 None None None None None None TRIM29|0.057405757|60.58%
View mp91583 both 11 rs4936509
dbSNP Clinvar
120041444 1124.77 C T . 1/1 38 SYNONYMOUS_CODING LOW None 0.50020 0.50020 None None None None None None TRIM29|0.057405757|60.58%

AP000867.1

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 mp91583 both 11 rs11826569
dbSNP Clinvar
71316406 76.77 G A . 0/1 23 SYNONYMOUS_CODING LOW None 0.10903 0.10900 None None None None None None None

AP000889.3

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 mp91583 both 11 rs199738409
dbSNP Clinvar
107463115 416.77 A C . 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.00599 0.00599 0.00148 0.00 0.12 None None None None None None ELMOD1|0.397130002|20.96%

AP000974.1

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 mp91583 both 11 rs7127501
dbSNP Clinvar
85564305 18.59 C A LowQual 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.07987 0.07987 0.01 0.13 None None None None None None None

AP001024.1

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 mp91583 both 11 rs650686
dbSNP Clinvar
107650473 1691.77 G A . 1/1 52 SYNONYMOUS_CODING LOW None 0.66913 0.66910 None None None None None None None

AP003062.1

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 mp91583 both 11 rs567001556
dbSNP Clinvar
134855496 213.8 C G . 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None None
View mp91583 both 11 rs10894922
dbSNP Clinvar
134855859 155.77 A G . 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.60 0.00 None None None None None None None

AP003068.23

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 mp91583 both 11 rs17880457
dbSNP Clinvar
64949119 115.77 G A . 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.18431 0.18430 0.00 0.24 None None None None None None CAPN1|0.25211602|31.37%
View mp91583 both 11 rs3953797
dbSNP Clinvar
64948277 1176.77 A C . 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.29812 0.29810 0.78 0.00 None None None None None None CAPN1|0.25211602|31.37%

AP2A2

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 mp91583 both 11 rs11538725
dbSNP Clinvar
993907 1724.77 C G . 0/1 120 SYNONYMOUS_CODING LOW None 0.18451 0.18450 0.13097 None None None None None None AP2A2|0.023484891|72.44%
View mp91583 both 11 rs10794358
dbSNP Clinvar
985547 1229.77 C T . 0/1 83 SYNONYMOUS_CODING LOW None 0.46106 0.46110 0.44776 None None None None None None AP2A2|0.023484891|72.44%

AP5B1

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 mp91583 both 11 rs610037
dbSNP Clinvar
65546857 1110.77 A C . 0/1 103 SYNONYMOUS_CODING LOW None 0.45387 0.45390 0.43501 None None None None None None AP5B1|0.021769875|73.29%
View mp91583 both 11 rs56798161
dbSNP Clinvar
65545913 806.77 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.03095 0.03095 0.02396 0.63 0.01 None None None None None None AP5B1|0.021769875|73.29%

APIP

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 mp91583 both 11 rs1571133
dbSNP Clinvar
34909926 260.77 T G . 0/1 22 SYNONYMOUS_CODING LOW None 0.57947 0.57950 0.40185 None None None None None None APIP|0.209674362|35.61%
View mp91583 both 11 rs1977420
dbSNP Clinvar
34910397 554.77 C T . 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.45747 0.45750 0.34098 0.12 0.02 None None None None None None APIP|0.209674362|35.61%
View mp91583 both 11 rs2986429
dbSNP Clinvar
34918375 2660.77 A G . 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.65036 0.65040 0.46 0.00 None None None None None None APIP|0.209674362|35.61%
View mp91583 both 11 rs2956114
dbSNP Clinvar
34937813 710.77 G A . 0/1 55 START_GAINED LOW None 0.43470 0.43470 0.31670 0.02 0.08 None None None None None None APIP|0.209674362|35.61%,PDHX|0.779810523|6.33%

APLNR

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 mp91583 both 11 rs948847
dbSNP Clinvar
57004344 850.77 G T . 0/1 67 SYNONYMOUS_CODING LOW None 0.58467 0.58470 0.48438 None None None None None None APLNR|0.396612969|20.99%

APOA4

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 mp91583 both 11 rs5092
dbSNP Clinvar
116693464 3026.77 C T . 1/1 86 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View mp91583 both 11 rs5104
dbSNP Clinvar
116692334 3081.77 C T . 1/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.75919 0.75920 0.12629 1.00 0.00 None None None None None None APOA4|0.026315681|71.18%
View mp91583 both 11 rs12721043
dbSNP Clinvar
116692293 1434.77 C A . 0/1 110 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.00785 0.01 0.77 None None None None None None APOA4|0.026315681|71.18%

ARAP1

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 mp91583 both 11 rs12805218
dbSNP Clinvar
72396990 1683.77 G A . 0/1 100 None None None 0.41354 0.41350 None None None None None None ARAP1|0.193135923|37.51%
View mp91583 both 11 rs56200889
dbSNP Clinvar
72408055 522.77 G C . 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.24920 0.24920 0.23554 0.29 0.12 None None None None None None ARAP1|0.193135923|37.51%
View mp91583 both 11 rs2291289
dbSNP Clinvar
72408657 361.77 C T . 0/1 28 SYNONYMOUS_CODING LOW None 0.25899 0.25900 0.34129 None None None None None None ARAP1|0.193135923|37.51%

ARCN1

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 mp91583 both 11 rs11216925
dbSNP Clinvar
118471423 698.77 T C . 0/1 44 SYNONYMOUS_CODING LOW None 0.28035 0.28040 0.14865 None None None None None None ARCN1|0.675421925|9.21%