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+ Genes 865

Genes:
A1BG, ABCA7, ABHD17A, AC004076.9, AC006116.20, AC008686.1, AC010327.2, AC011500.1, AC012313.1, AC018755.1, AC020907.1, AC020922.1, AC024592.12, AC025278.1, AC074212.3, ACPT, ACSBG2, ACTL9, ACTN4, ADAMTS10, ADAMTSL5, ADAT3, ADCK4, ADM5, AES, AKAP8L, ALDH16A1, AMH, ANGPTL4, ANKLE1, ANKRD24, ANKRD27, ANO8, AP2S1, AP3D1, APBA3, APC2, APOE, ARHGAP33, ARHGEF1, ARHGEF18, ARID3A, ARMC6, ARRDC2, ARRDC5, ASF1B, ASPDH, ATF5, ATP13A1, ATP1A3, ATP4A, ATP5SL, ATP8B3, AXL, B3GNT3, B3GNT8, B9D2, BABAM1, BCAM, BCAT2, BCKDHA, BCL2L12, BEST2, BIRC8, BRD4, BSG, BSPH1, BTBD2, C19orf12, C19orf24, C19orf26, C19orf38, C19orf40, C19orf44, C19orf45, C19orf54, C19orf55, C19orf68, C19orf71, C19orf73, C19orf80, C19orf81, C2CD4C, C3, C5AR1, CA11, CABP5, CACNA1A, CACTIN, CADM4, CALR3, CAPN12, CATSPERD, CATSPERG, CBLC, CCDC105, CCDC106, CCDC114, CCDC124, CCDC130, CCDC151, CCDC155, CCDC159, CCDC61, CCDC8, CCDC9, CCER2, CCL25, CD177, CD22, CD320, CD33, CD37, CD3EAP, CDKN2D, CEACAM16, CEACAM18, CEACAM21, CEACAM3, CEACAM4, CEACAM5, CEACAM6, CEACAM7, CEACAM8, CEP89, CERS1, CERS4, CHAF1A, CHERP, CIB3, CIRBP, CKM, CLASRP, CLC, CLEC4G, CLPTM1, CNN2, CNOT3, COL5A3, COLGALT1, COPE, CPAMD8, CRB3, CRLF1, CSNK1G2, CTB-133G6.1, CTD-2368P22.1, CTD-3193O13.9, CTU1, CYP2A6, CYP2A7, CYP2B6, CYP2S1, CYP4F11, CYP4F12, CYP4F2, CYP4F3, CYTH2, DAPK3, DCAF15, DENND1C, DHDH, DHX34, DIRAS1, DLL3, DMKN, DMRTC2, DMWD, DNAAF3, DNAJB1, DNMT1, DOCK6, DOHH, DOT1L, DPF1, DPY19L3, ECH1, EEF2, EGLN2, EHD2, EID2B, EIF3G, ELL, ELSPBP1, EMC10, EMR1, EMR2, EMR3, EPS15L1, EPS8L1, ERCC1, ERCC2, ERVV-2, ETFB, ETHE1, ETV2, EVI5L, EXOC3L2, EXOSC5, FAM129C, FAM187B, FAM71E2, FAM83E, FARSA, FBN3, FBXL12, FBXO17, FCAR, FCER2, FCGBP, FCGRT, FCHO1, FDX1L, FFAR1, FFAR2, FGF21, FGF22, FIZ1, FLT3LG, FOSB, FPR1, FSD1, FTL, FUT1, FUT2, FUT3, FUT5, FUT6, FXYD3, FXYD5, GALP, GCDH, GDF1, GDF15, GFY, GIPC1, GIPR, GLTSCR1, GLTSCR2, GMIP, GNA15, GNG8, GP6, GPATCH1, GPI, GPR108, GPX4, GRAMD1A, GRIN2D, GRIN3B, GRWD1, GSK3A, GTPBP3, GZMM, HAS1, HAUS8, HCN2, HCST, HDGFRP2, HIF3A, HIPK4, HKR1, HMHA1, HNRNPUL1, HOMER3, HRC, HSH2D, HSPBP1, ICAM3, IFI30, IFNL1, IFNL3, IFNL4, IGFL1, IGSF23, IL11, IL27RA, IL4I1, ILF3, ILVBL, INSL3, INSR, IRF3, IRGC, ISYNA1, ITPKC, JSRP1, KANK2, KANK3, KCNA7, KCNC3, KCNN4, KDM4B, KHSRP, KIAA0355, KIAA1683, KIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, KIR3DX1, KIRREL2, KISS1R, KLF1, KLF2, KLHL26, KLK1, KLK10, KLK12, KLK14, KLK15, KLK3, KLK4, KLK5, KLK7, KLK9, KMT2B, KPTN, KRI1, KXD1, LAIR1, LAIR2, LDLR, LENG8, LENG9, LGALS14, LGALS16, LGI4, LHB, LIG1, LILRA2, LILRA3, LILRA4, LILRA6, LILRB1, LILRB2, LILRB3, LILRB4, LILRB5, LIN37, LIN7B, LMNB2, LPAR2, LPHN1, LPPR3, LRG1, LRP3, LRRC25, LRRC8E, LSM4, LSR, LTBP4, LYPD4, LYPD5, MADCAM1, MAG, MAMSTR, MAN2B1, MAP1S, MAP2K2, MAP3K10, MARK4, MAST1, MAST3, MATK, MAU2, MBD3L1, MBOAT7, MCOLN1, MED16, MEGF8, MFSD12, MIA, MISP, MOB3A, MPND, MPV17L2, MRPL4, MRPS12, MUC16, MUM1, MYBPC2, MYH14, MYO1F, MYO9B, MYPOP, MZF1, NANOS2, NAPSA, NCLN, NDUFA11, NDUFA3, NDUFB7, NDUFS7, NFIX, NFKBID, NKG7, NKPD1, NLRP11, NLRP12, NLRP13, NLRP2, NLRP4, NLRP5, NLRP7, NLRP8, NLRP9, NMRK2, NOTCH3, NOVA2, NPAS1, NPHS1, NR1H2, NR2F6, NUCB1, NUMBL, NUP62, NWD1, NXNL1, OCEL1, ODF3L2, OLFM2, OPA3, OR10H1, OR10H2, OR10H3, OR10H5, OR1I1, OR1M1, OR2Z1, OR7A10, OR7A17, OR7A5, OR7C1, OR7C2, OR7D2, OR7D4, OR7E24, OR7G1, OR7G3, OSCAR, OVOL3, PAF1, PALM, PALM3, PAPL, PCP2, PCSK4, PDCD5, PDE4A, PDE4C, PEG3, PEPD, PET100, PEX11G, PGLS, PGLYRP2, PGPEP1, PHLDB3, PIAS4, PIH1D1, PIK3R2, PIP5K1C, PKN1, PLA2G4C, PLEKHA4, PLEKHG2, PLIN3, PLIN4, PLIN5, PNMAL2, PNPLA6, POLD1, POLR2E, PPAN-P2RY11, PPAP2C, PPFIA3, PPP1R15A, PPP1R37, PPP5C, PRAM1, PRKCG, PRKCSH, PRKD2, PRODH2, PRPF31, PRR12, PRR22, PRR24, PRRG2, PRSS57, PRX, PSG1, PSG11, PSG2, PSG3, PSG4, PSG5, PSG6, PSG7, PSG8, PSG9, PSPN, PTBP1, PTGIR, PTOV1, PTPRH, PTPRS, PVR, PVRL2, RAB11B, RAB3D, RAB4B, RAB8A, RASAL3, RASGRP4, RASIP1, RAVER1, RCN3, RDH13, RDH8, REXO1, RFPL4A, RFX1, RFX2, RGL3, RGS9BP, RHPN2, RINL, RLN3, RNF126, RPL28, RPS16, RPSAP58, RRAS, RTBDN, RTN2, RUVBL2, RYR1, S1PR2, S1PR5, SAE1, SAMD1, SARS2, SBK2, SBK3, SBNO2, SBSN, SCAF1, SCN1B, SDHAF1, SEMA6B, SERTAD1, SGTA, SH2D3A, SH3GL1, SHANK1, SHC2, SHD, SHKBP1, SIGLEC10, SIGLEC11, SIGLEC12, SIGLEC5, SIGLEC6, SIGLEC7, SIGLEC8, SIGLEC9, SIN3B, SIPA1L3, SIRT2, SIRT6, SIX5, SLC1A5, SLC1A6, SLC25A23, SLC25A41, SLC27A5, SLC35E1, SLC39A3, SLC44A2, SLC7A10, SLC8A2, SMG9, SMIM17, SNAPC2, SNRPA, SPHK2, SPIB, SPTBN4, SRRM5, SSBP4, SSC5D, STAP2, STRN4, STXBP2, SUGP1, SUGP2, SULT2A1, SULT2B1, SUPT5H, SWSAP1, SYDE1, SYMPK, SYNE4, SYT3, TBC1D17, TBXA2R, TCF3, TDRD12, TECR, TGFB1, THEG, TIMM44, TIMM50, TJP3, TLE2, TLE6, TMC4, TMEM143, TMEM145, TMEM161A, TMEM221, TMEM238, TMEM259, TMEM59L, TMEM86B, TMEM91, TMIGD2, TMPRSS9, TNFSF14, TNNT1, TPGS1, TPRX1, TRAPPC5, TRIM28, TRIP10, TRPM4, TSEN34, TSHZ3, TSKS, TSPAN16, TTYH1, TUBB4A, TULP2, TYK2, U2AF1L4, U2AF2, UBA2, UBA52, UBE2M, UBE2S, UBXN6, UNC13A, UPK1A, UQCRFS1, URI1, USE1, USF2, USHBP1, USP29, VAV1, VN1R1, VN1R4, VRK3, VSIG10L, VSTM1, VSTM2B, WDR18, WDR62, WDR87, WDR88, WIZ, WTIP, XAB2, XRCC1, ZBTB45, ZC3H4, ZFP14, ZFP28, ZFP30, ZFP82, ZFR2, ZIM2, ZIM3, ZNF100, ZNF112, ZNF114, ZNF132, ZNF135, ZNF14, ZNF146, ZNF154, ZNF155, ZNF17, ZNF175, ZNF177, ZNF180, ZNF181, ZNF208, ZNF211, ZNF221, ZNF222, ZNF223, ZNF224, ZNF226, ZNF227, ZNF229, ZNF230, ZNF233, ZNF234, ZNF235, ZNF253, ZNF254, ZNF256, ZNF257, ZNF260, ZNF264, ZNF266, ZNF274, ZNF28, ZNF283, ZNF284, ZNF285, ZNF30, ZNF302, ZNF304, ZNF320, ZNF324, ZNF324B, ZNF331, ZNF333, ZNF347, ZNF358, ZNF382, ZNF404, ZNF414, ZNF415, ZNF416, ZNF417, ZNF419, ZNF429, ZNF432, ZNF433, ZNF44, ZNF440, ZNF441, ZNF443, ZNF446, ZNF45, ZNF460, ZNF461, ZNF468, ZNF470, ZNF471, ZNF480, ZNF493, ZNF506, ZNF507, ZNF524, ZNF525, ZNF527, ZNF528, ZNF529, ZNF530, ZNF534, ZNF536, ZNF540, ZNF543, ZNF548, ZNF549, ZNF550, ZNF554, ZNF555, ZNF556, ZNF557, ZNF558, ZNF559, ZNF561, ZNF565, ZNF566, ZNF567, ZNF568, ZNF57, ZNF571, ZNF573, ZNF578, ZNF579, ZNF583, ZNF584, ZNF585A, ZNF599, ZNF600, ZNF606, ZNF607, ZNF610, ZNF614, ZNF615, ZNF616, ZNF625, ZNF626, ZNF627, ZNF628, ZNF653, ZNF66, ZNF665, ZNF667, ZNF675, ZNF676, ZNF677, ZNF681, ZNF699, ZNF700, ZNF701, ZNF708, ZNF714, ZNF724P, ZNF729, ZNF730, ZNF737, ZNF738, ZNF749, ZNF765, ZNF77, ZNF772, ZNF781, ZNF787, ZNF788, ZNF790, ZNF792, ZNF793, ZNF799, ZNF8, ZNF805, ZNF808, ZNF812, ZNF813, ZNF816, ZNF83, ZNF835, ZNF836, ZNF837, ZNF841, ZNF844, ZNF845, ZNF846, ZNF850, ZNF878, ZNF880, ZNF90, ZNF91, ZNF93, ZNF98, ZNRF4, ZSCAN1, ZSCAN18, ZSCAN5A, ZSCAN5B, ZSCAN5C, ZSCAN5D, hsa-mir-1199, hsa-mir-150,

+ Genes associated with diseases 130

Genes at Omim

ABCA7, ACPT, ACTN4, ADAMTS10, ADAT3, AMH, ANGPTL4, AP2S1, AP3D1, APC2, APOE, ARHGEF18, ATP1A3, B9D2, BCAT2, BCKDHA, BSG, C19orf12, C3, CACNA1A, CCDC114, CCDC151, CCDC8, CD320, CEACAM16, CERS1, COLGALT1, CPAMD8, CRLF1, CYP2A6, CYP2B6, DLL3, DNAAF3, DNMT1, DOCK6, EEF2, ERCC1, ERCC2, ETFB, ETHE1, FDX1L, FTL, FUT1, FUT2, FUT3, FUT6, GCDH, GDF1, GIPR, GP6, GPI, GPX4, GRIN2D, GTPBP3, IFNL3, INSL3, INSR, IRF3, ITPKC, KANK2, KCNC3, KCNN4, KIR3DL1, KISS1R, KLF1, KLK1, KLK4, KMT2B, KPTN, LDLR, LGI4, LHB, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MAST1, MBOAT7, MCOLN1, MEGF8, MYH14, MYO9B, NDUFA11, NDUFS7, NFIX, NLRP12, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PET100, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRPF31, PRX, RAB11B, RGS9BP, RTN2, RYR1, S1PR2, SARS2, SCN1B, SDHAF1, SH3GL1, SIPA1L3, SIX5, SPTBN4, STXBP2, SULT2B1, SYNE4, TBXA2R, TCF3, TECR, TGFB1, TIMM50, TLE6, TNNT1, TRPM4, TSEN34, TUBB4A, TYK2, WDR62, XRCC1,
ABCA7 {Alzheimer disease 9, susceptibility to}, 608907 (3)
ACPT Amelogenesis imperfecta, type IJ, 617297 (3)
ACTN4 Glomerulosclerosis, focal segmental, 1, 603278 (3)
ADAMTS10 Weill-Marchesani syndrome 1, recessive, 277600 (3)
ADAT3 Mental retardation, autosomal recessive 36, 615286 (3)
AMH Persistent Mullerian duct syndrome, type I, 261550 (3)
ANGPTL4 Plasma triglyceride level QTL, low, 615881 (3)
AP2S1 Hypocalciuric hypercalcemia, type III, 600740 (3)
AP3D1 ?Hermansky-Pudlak syndrome 10, 617050 (3)
APC2 ?Sotos syndrome 3, 617169 (3)
APOE Alzheimer disease-2, 104310 (3)
Hyperlipoproteinemia, type III, 617347 (3)
Lipoprotein glomerulopathy, 611771 (3)
Sea-blue histiocyte disease, 269600 (3)
{?Macular degeneration, age-related}, 603075 (3)
{Coronary artery disease, severe, susceptibility to}, 617347 (3)
ARHGEF18 Retinitis pigmentosa 78, 617433 (3)
ATP1A3 Alternating hemiplegia of childhood 2, 614820 (3)
CAPOS syndrome, 601338 (3)
Dystonia-12, 128235 (3)
B9D2 Joubert syndrome 34, 614175 (3)
?Meckel syndrome 10, 614175 (3)
BCAT2 ?Hypervalinemia or hyperleucine-isoleucinemia (1)
BCKDHA Maple syrup urine disease, type Ia, 248600 (3)
BSG [Blood group, OK], 111380 (3)
C19orf12 Neurodegeneration with brain iron accumulation 4, 614298 (3)
?Spastic paraplegia 43, autosomal recessive, 615043 (3)
C3 {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, 612925 (3)
C3 deficiency, 613779 (3)
{Macular degeneration, age-related, 9}, 611378 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CCDC114 Ciliary dyskinesia, primary, 20, 615067 (3)
CCDC151 Ciliary dyskinesia, primary, 30, 616037 (3)
CCDC8 3-M syndrome 3, 614205 (3)
CD320 Methylmalonic aciduria, transient, due to transcobalamin receptor defect, 613646 (3)
CEACAM16 Deafness, autosomal dominant 4B, 614614 (3)
CERS1 ?Epilepsy, progressive myoclonic, 8, 616230 (3)
COLGALT1 Brain small vessel disease 3, 618360 (3)
CPAMD8 Anterior segment dysgenesis 8, 617319 (3)
CRLF1 Cold-induced sweating syndrome 1, 272430 (3)
CYP2A6 {Lung cancer, resistance to}, 211980 (3)
Coumarin resistance, 122700 (3)
{Nicotine addiction, protection from}, 188890 (3)
CYP2B6 Efavirenz, poor metabolism of, 614546 (3)
{Efavirenz central nervous system toxicity, susceptibility to}, 614546 (3)
DLL3 Spondylocostal dysostosis 1, autosomal recessive, 277300 (3)
DNAAF3 Ciliary dyskinesia, primary, 2, 606763 (3)
DNMT1 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121 (3)
Neuropathy, hereditary sensory, type IE, 614116 (3)
DOCK6 Adams-Oliver syndrome 2, 614219 (3)
EEF2 ?Spinocerebellar ataxia 26, 609306 (3)
ERCC1 Cerebrooculofacioskeletal syndrome 4, 610758 (3)
ERCC2 ?Cerebrooculofacioskeletal syndrome 2, 610756 (3)
Trichothiodystrophy 1, photosensitive, 601675 (3)
Xeroderma pigmentosum, group D, 278730 (3)
ETFB Glutaric acidemia IIB, 231680 (3)
ETHE1 Ethylmalonic encephalopathy, 602473 (3)
FDX1L Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy, 251900 (3)
FTL Hyperferritinemia-cataract syndrome, 600886 (3)
L-ferritin deficiency, dominant and recessive, 615604 (3)
Neurodegeneration with brain iron accumulation 3, 606159 (3)
FUT1 [Bombay phenotype], 616754 (3)
FUT2 {Norwalk virus infection, resistance to} (3)
{Vitamin B12 plasma level QTL1}, 612542 (3)
[Bombay phenotype, digenic], 616754 (3)
FUT3 [Blood group, Lewis] (3)
FUT6 Fucosyltransferase 6 deficiency, 613852 (3)
GCDH Glutaricaciduria, type I, 231670 (3)
GDF1 Congenital heart defects, multiple types, 6, 613854 (3)
Right atrial isomerism (Ivemark), 208530 (3)
GIPR [Plasma glucose, 2-hour, QTL 2] (2)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPI Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency, 613470 (3)
GPX4 Spondylometaphyseal dysplasia, Sedaghatian type, 250220 (3)
GRIN2D Epileptic encephalopathy, early infantile, 46, 617162 (3)
GTPBP3 Combined oxidative phosphorylation deficiency 23, 616198 (3)
IFNL3 {Hepatitis C virus infection, response to therapy of}, 609532 (3)
INSL3 Cryptorchidism, 219050 (3)
INSR Hyperinsulinemic hypoglycemia, familial, 5, 609968 (3)
Leprechaunism, 246200 (3)
Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549 (3)
Rabson-Mendenhall syndrome, 262190 (3)
IRF3 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 7}, 616532 (3)
ITPKC {Kawasaki disease, susceptibility to}, 611775 (3)
KANK2 Nephrotic syndrome, type 16, 617783 (3)
Palmoplantar keratoderma and woolly hair, 616099 (3)
KCNC3 Spinocerebellar ataxia 13, 605259 (3)
KCNN4 Dehydrated hereditary stomatocytosis 2, 616689 (3)
KIR3DL1 {AIDS, delayed/rapid progression to}, 609423 (3)
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia, 614837 (3)
?Precocious puberty, central, 1, 176400 (3)
KLF1 Blood group--Lutheran inhibitor, 111150 (3)
Dyserythropoietic anemia, congenital, type IV, 613673 (3)
[Hereditary persistence of fetal hemoglobin], 613566 (3)
KLK1 [Kallikrein, decreased urinary activity of], 615953 (3)
KLK4 Amelogenesis imperfecta, type IIA1, 204700 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KPTN Mental retardation, autosomal recessive 41, 615637 (3)
LDLR Hypercholesterolemia, familial, 143890 (3)
LDL cholesterol level QTL2, 143890 (3)
LGI4 Arthrogryposis multiplex congenita, neurogenic, with myelin defect, 617468 (3)
LHB Hypogonadotropic hypogonadism 23 with or without anosmia, 228300 (3)
LMNB2 {Lipodystrophy, partial, acquired, susceptibility to}, 608709 (3)
?Epilepsy, progressive myoclonic, 9, 616540 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAG Spastic paraplegia 75, autosomal recessive, 616680 (3)
MAN2B1 Mannosidosis, alpha-, types I and II, 248500 (3)
MAP2K2 Cardiofaciocutaneous syndrome 4, 615280 (3)
MAST1 Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, 618273 (3)
MBOAT7 Mental retardation, autosomal recessive 57, 617188 (3)
MCOLN1 Mucolipidosis IV, 252650 (3)
MEGF8 Carpenter syndrome 2, 614976 (3)
MYH14 Deafness, autosomal dominant 4A, 600652 (3)
?Peripheral neuropathy, myopathy, hoarseness, and hearing loss, 614369 (3)
MYO9B {Celiac disease, susceptibility to, 4}, 609753 (3)
NDUFA11 Mitochondrial complex I deficiency, nuclear type 14, 618236 (3)
NDUFS7 Mitochondrial complex I deficiency, nuclear type 3, 618224 (3)
NFIX Marshall-Smith syndrome, 602535 (3)
Sotos syndrome 2, 614753 (3)
NLRP12 Familial cold autoinflammatory syndrome 2, 611762 (3)
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 (3)
Lateral meningocele syndrome, 130720 (3)
?Myofibromatosis, infantile 2, 615293 (3)
NPHS1 Nephrotic syndrome, type 1, 256300 (3)
NUP62 Striatonigral degeneration, infantile, 271930 (3)
OPA3 Optic atrophy 3 with cataract, 165300 (3)
3-methylglutaconic aciduria, type III, 258501 (3)
PEPD Prolidase deficiency, 170100 (3)
PET100 Mitochondrial complex IV deficiency, 220110 (3)
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, 603387 (3)
PIP5K1C Lethal congenital contractural syndrome 3, 611369 (3)
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia, 616763 (3)
PNPLA6 Boucher-Neuhauser syndrome, 215470 (3)
Oliver-McFarlane syndrome, 275400 (3)
?Laurence-Moon syndrome, 245800 (3)
Spastic paraplegia 39, autosomal recessive, 612020 (3)
POLD1 Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, 615381 (3)
{Colorectal cancer, susceptibility to, 10}, 612591 (3)
PRKCG Spinocerebellar ataxia 14, 605361 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRPF31 Retinitis pigmentosa 11, 600138 (3)
PRX Charcot-Marie-Tooth disease, type 4F, 614895 (3)
Dejerine-Sottas disease, 145900 (3)
RAB11B Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, 617807 (3)
RGS9BP Bradyopsia, 608415 (3)
RTN2 Spastic paraplegia 12, autosomal dominant, 604805 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
S1PR2 Deafness, autosomal recessive 68, 610419 (3)
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 (3)
SCN1B Atrial fibrillation, familial, 13, 615377 (3)
Brugada syndrome 5, 612838 (3)
Cardiac conduction defect, nonspecific, 612838 (3)
Epilepsy, generalized, with febrile seizures plus, type 1, 604233 (3)
Epileptic encephalopathy, early infantile, 52, 617350 (3)
SDHAF1 Mitochondrial complex II deficiency, 252011 (3)
SH3GL1 Leukemia, acute myeloid, 601626 (1)
SIPA1L3 ?Cataract 45, 616851 (3)
SIX5 Branchiootorenal syndrome 2, 610896 (3)
SPTBN4 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, 617519 (3)
STXBP2 Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)
SULT2B1 Ichthyosis, congenital, autosomal recessive 14, 617571 (3)
SYNE4 Deafness, autosomal recessive 76, 615540 (3)
TBXA2R {Bleeding disorder, platelet-type, 13, susceptibility to}, 614009 (3)
TCF3 Agammaglobulinemia 8, autosomal dominant, 616941 (3)
TECR Mental retardation, autosomal recessive 14, 614020 (3)
TGFB1 Camurati-Engelmann disease, 131300 (3)
Inflammatory bowel disease, immunodeficiency, and encephalopathy, 618213 (3)
{Cystic fibrosis lung disease, modifier of}, 219700 (3)
TIMM50 3-methylglutaconic aciduria, type IX, 617698 (3)
TLE6 Preimplantation embryonic lethality, 616814 (3)
TNNT1 Nemaline myopathy 5, Amish type, 605355 (3)
TRPM4 Progressive familial heart block, type IB, 604559 (3)
TSEN34 ?Pontocerebellar hypoplasia type 2C, 612390 (3)
TUBB4A Leukodystrophy, hypomyelinating, 6, 612438 (3)
Dystonia 4, torsion, autosomal dominant, 128101 (3)
TYK2 Immunodeficiency 35, 611521 (3)
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)
XRCC1 ?Spinocerebellar ataxia, autosomal recessive 26, 617633 (3)

Genes at Clinical Genomics Database

ACTN4, ADAMTS10, ADCK4, AMH, AP2S1, APOE, ATP1A3, B9D2, BCAM, BCKDHA, BSG, C3, CACNA1A, CALR3, CCDC114, CCDC151, CCDC8, CD320, CEACAM16, CERS1, CRLF1, CYP2A6, CYP2B6, CYP4F2, DLL3, DNMT1, DOCK6, ERCC1, ERCC2, ETFB, ETHE1, FTL, FUT1, FUT3, FUT6, GCDH, GDF1, GP6, GPI, GPX4, GTPBP3, IFNL3, INSL3, INSR, IRF3, KANK2, KCNC3, KCNN4, KISS1R, KLF1, KLK4, KPTN, LDLR, LHB, LMNB2, LTBP4, MAG, MAN2B1, MAP2K2, MCOLN1, MEGF8, MYH14, NDUFA11, NDUFS7, NFIX, NLRP12, NLRP7, NOTCH3, NPHS1, NUP62, OPA3, PEPD, PET100, PIK3R2, PIP5K1C, PLEKHG2, PNPLA6, POLD1, PRKCG, PRKCSH, PRPF31, PRX, RGS9BP, RTN2, RYR1, S1PR2, SARS2, SCN1B, SDHAF1, SIPA1L3, SIX5, SMG9, STXBP2, SYNE4, TBXA2R, TCF3, TECR, TGFB1, TLE6, TNNT1, TRPM4, TSEN34, TUBB4A, TYK2, WDR62, ZIM2, ZNF480, ZNF565,
ACTN4 Focal segmental glomerulosclerosis 1
ADAMTS10 Weill-Marchesani syndrome 1
ADCK4 Nephrotic syndrome, type 9
AMH Persistent Mullerian duct syndrome, type I
AP2S1 Hypocalciuric hypercalcemia, familial, type III
APOE Dysbetalipoproteinemia, familial (Hyperlipoproteinemia, type III)
Lipoprotein glomerulopathy
Sea-blue histiocyte disease
ATP1A3 Alternating hemiplegia of childhood 2
B9D2 Meckel syndrome 10
BCAM Blood group, Lutheran system
Blood group, Auberger system
Lutheran, null
BCKDHA Maple syrup urine disease, type Ia
BSG Blood group, OK
C3 Complement component 3 deficiency, autosomal recessive
Hemolytic uremic syndrome, atypical, susceptibility to, 5
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CALR3 Cardiomyopathy, familial hypertrophic, 19
CCDC114 Ciliary dyskinesia, primary, 20
CCDC151 Ciliary dyskinesia, primary,30
CCDC8 Three M syndrome 3
CD320 Methylmalonic aciduria due to transcobalamin receptor defect
CEACAM16 Deafness, autosomal dominant 4B
CERS1 Epilepsy, progressive myoclonic 8
CRLF1 Crisponi syndrome
Cold-induced sweating syndrome, type 1
CYP2A6 CYP2A6-related drug metabolism
CYP2B6 Efavirenz, poor metabolism of
CYP4F2 Warfarin metabolism
DLL3 Spondylocostal dysostosis 1, autosomal recessive
DNMT1 Neuropathy, hereditary sensory, type IE
Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant
DOCK6 Adams-Oliver syndrome 2
ERCC1 Cerebrooculofacioskeletal syndrome 4
ERCC2 Trichothiodystrophy 1, photosensitive
Xeroderma pigmentosum, group D
ETFB Multiple acyl-CoA dehydrogenase deficiency
Glutaric aciduria II
ETHE1 Ethylmalonic encephalopathy
FTL L-ferritin deficiency
Neurodegeneration with brain iron accumulation 3
Hyperferritinemia-cataract syndrome
FUT1 Bombay phenotype
Para-Bombay phenotype
H-deficient blood group
Reunion variant
FUT3 Blood group, Lewis
FUT6 Fucosyltransferase 6 deficiency
GCDH Glutaric aciduria, type I
GDF1 Transposition of the great arteries, dextro-looped 3
Double-outlet right ventricle
GP6 Bleeding disorder, platelet-type, 11
GPI Hemolytic anemia, nonspherocytic due to glucose phosphate isomerase deficiency
GPX4 Sedaghatian-type spondylometaphyseal dysplasia
GTPBP3 Combined oxidative phosphorylation deficiency 23
IFNL3 Drug metabolism, IL28B-related
INSL3 Cryptorchidism
INSR Hyperinsulinemic hypoglycemia, familial, 5
Rabson-Mendenhall syndrome
Donohoe syndrome
IRF3 Herpes simplex encephalitis, susceptibility to, 7
KANK2 Palmoplantar keratoderma and woolly hair
KCNC3 Spinocerebellar ataxia 13
KCNN4 Dehydrated hereditary stomatocytosis 2
KISS1R Hypogonadotropic hypogonadism 8 with or without anosmia
KLF1 Anemia, dyserythropoietic congenital, type IV
Blood group, Lutheran inhibitor
KLK4 Amelogenesis imperfecta, type IIA1
KPTN Mental retardation, autosomal recessive 41
LDLR Hypercholesterolemia, familial
LHB Hypogonadotropic hypogonadism 23 with or without anosmia
LMNB2 Liopdystrophy, partial, acquired
Epilepsy, progressive myoclonic, 9
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAG Spastic paraplegia, autosomal recessive 75
MAN2B1 Mannosidosis, alpha B, lysosomal
MAP2K2 Cardiofaciocutaneous syndrome
MCOLN1 Mucolipidosis IV
MEGF8 Carpenter syndrome 2
MYH14 Deafness, autosomal dominant 4
Deafness, autosomal dominant 4B
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
NDUFA11 Mitochondrial complex I deficiency
NDUFS7 Mitochondrial complex I deficiency
Leigh syndrome
NFIX Marshall-Smithsyndrome
Sotos syndrome 2
NLRP12 Familial cold autoinflammatory syndrome 2
NLRP7 Hydatidiform mole, recurrent, 1
NOTCH3 Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL1)
NPHS1 Nephrotic syndrome, type 1
NUP62 Striatonigral degeneration, infantile
OPA3 3-methylglutaconic aciduria, type III
Optic atrophy 3, autosomal dominant
PEPD Prolidase deficiency
PET100 Mitochondrial complex IV deficiency
PIK3R2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1
PIP5K1C Lethal congenital contractural syndrome 3
PLEKHG2 Leukodystrophy and acquired microcephaly with or without dystonia
PNPLA6 Boucher-Neuhauser syndrome
Laurence-Moon syndrome
Oliver-McFarlane syndrome
POLD1 Colorectal cancer, susceptibility to, 10
PRKCG Spinocerebellar ataxia 14
PRKCSH Polycystic liver disease
PRPF31 Retinitis pigmentosa 11
PRX Dejerine-Sottas disease
Charcot-Marie-Tooth disease, type 4F
RGS9BP Bradyopsia
RTN2 Spastic paraplegia 12, autosomal dominant
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
S1PR2 Deafness, autosomal recessive 68
SARS2 Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
SCN1B Atrial fibrillation, familial 13
Brugada syndrome 5
SDHAF1 Mitochondrial complex II deficiency
SIPA1L3 Cataract 45
SIX5 Branchiootorenal syndrome 2
SMG9 Heart and brain malformation syndrome
STXBP2 Hemophagocytic lymphohistiocytosis, familial 5
SYNE4 Deafness, autosomal recessive, 76
TBXA2R Bleeding disorder, platelet-type 13, susceptibility to
TCF3 Agammaglobulinemia 8, autosomal dominant
TECR Mental retardation, autosomal recessive 14
TGFB1 Camurati-Engelmann disease
TLE6 Preimplantation embryonic lethality
TNNT1 Nemaline myopathy 5
TRPM4 Progressive familial heart block, type IB
TSEN34 Pontocerebellar hypoplasia type 2C
TUBB4A Dystonia 4, torsion, autosomal dominant
Leukodystrophy, hypomyelinating, 6
TYK2 Immunodeficiency 35
WDR62 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations
ZIM2 Schizophrenia
ZNF480 Schizophrenia
ZNF565 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 10967
Number of Genes: 865

Export to: CSV
  • Page 1 of 110

A1BG
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 mm210206egs 19 rs893184
dbSNP Clinvar 		58864479 11815.09 T C PASS 1/1 194 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84844 0.84840 0.10849 0.91 0.00 None None None None None None A1BG|0.00221541|90.38%

ABCA7
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 mm210206egs 19 rs3745842
dbSNP Clinvar 		1055191 3752.46 G A PASS 0/1 191 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39058 0.39060 0.40647 0.54 0.00 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs4147934
dbSNP Clinvar 		1065018 6406.09 G T PASS 1/1 141 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60503 0.60500 0.25026 0.88 0.03 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3764645
dbSNP Clinvar 		1042809 919.88 A G PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39956 0.39960 0.38867 0.48 0.04 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3752243
dbSNP Clinvar 		1054060 11910.46 A G PASS 0/1 501 SYNONYMOUS_CODING LOW SILENT 0.53614 0.53610 0.47355 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3752241
dbSNP Clinvar 		1053524 762.88 C G PASS 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.18271 0.18270 0.16388 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3764652
dbSNP Clinvar 		1052005 2087.46 C T PASS 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.37939 0.37940 0.40154 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs74176364
dbSNP Clinvar 		1050996 2051.88 G A PASS 0/1 166 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02256 0.02256 0.00517 0.04 0.23 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3752240
dbSNP Clinvar 		1051214 891.88 A G PASS 0/1 57 SYNONYMOUS_CODING LOW SILENT 0.28914 0.28910 0.36546 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3752246
dbSNP Clinvar 		1056492 15213.09 G C PASS 1/1 350 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.82548 0.82550 0.12788 1.00 0.00 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3752237
dbSNP Clinvar 		1047161 3449.88 A G PASS 0/1 269 SYNONYMOUS_CODING LOW SILENT 0.69529 0.69530 0.37591 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs4147930
dbSNP Clinvar 		1064193 2703.09 G A PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.60643 0.60640 0.29566 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs881768
dbSNP Clinvar 		1056065 2909.46 A G PASS 0/1 108 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.44209 0.44210 0.45937 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs4147935
dbSNP Clinvar 		1065044 2438.88 C T PASS 0/1 185 SYNONYMOUS_CODING LOW SILENT 0.26141 None None None None None None ABCA7|0.007770288|82.8%
View mm210206egs 19 rs3752234
dbSNP Clinvar 		1047002 2127.88 A G PASS 0/1 134 SYNONYMOUS_CODING LOW SILENT 0.57887 0.57890 0.46635 None None None None None None ABCA7|0.007770288|82.8%

ABHD17A
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 mm210206egs 19 rs4807160
dbSNP Clinvar 		1880950 3408.44 T C PASS 1/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63099 0.63100 0.36662 1.00 0.00 None None None None None None ABHD17A|0.044405191|64.37%

AC004076.9
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 mm210206egs 19 rs4801481
dbSNP Clinvar 		57949426 2647.09 A G PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.90915 0.90910 0.00 0.00 None None None None None None ZNF749|0.000341563|99.24%

AC006116.20
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 mm210206egs 19 rs3205192
dbSNP Clinvar 		56797879 692.88 G A PASS 0/1 65 None None None 0.37640 0.37640 0.00 None None None None None None ZSCAN5A|0.000278912|99.5%
View mm210206egs 19 rs74177180
dbSNP Clinvar 		56797842 1548.88 CCTT C PASS 0/1 74 None None None 0.08566 0.08566 None None None None None None ZSCAN5A|0.000278912|99.5%

AC008686.1
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 mm210206egs 19 rs62111900
dbSNP Clinvar 		13900059 690.46 A G PASS 0/1 29 SYNONYMOUS_CODING LOW SILENT 0.14637 0.14640 None None None None None None None
View mm210206egs 19 rs536638867
dbSNP Clinvar 		13899041 1477.59 CT... C,... PASS 1/2 30 FRAME_SHIFT HIGH 0.42113 0.42110 None None None None None None None

AC010327.2
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 mm210206egs 19 rs4337407
dbSNP Clinvar 		55739340 165.25 A G PASS 1/1 2 SYNONYMOUS_CODING LOW SILENT 0.77796 0.77800 None None None None None None TMEM86B|0.001127619|94.8%

AC011500.1
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 mm210206egs 19 rs1865091
dbSNP Clinvar 		39932066 2721.09 T C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63998 0.64000 0.24 0.00 None None None None None None SUPT5H|0.226168272|33.75%

AC012313.1
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 mm210206egs 19 rs13343526
dbSNP Clinvar 		58908150 8821.09 C G PASS 1/1 164 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85503 0.85500 1.00 0.00 None None None None None None None

AC018755.1
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 mm210206egs 19 rs35740364
dbSNP Clinvar 		52097401 8810.46 T C PASS 0/1 359 SYNONYMOUS_CODING LOW SILENT 0.16913 0.16910 None None None None None None None

AC020907.1
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 mm210206egs 19 rs2445826
dbSNP Clinvar 		35597352 8980.09 T C PASS 1/1 126 SYNONYMOUS_CODING LOW SILENT 0.99101 0.99100 None None None None None None None

AC020922.1
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 mm210206egs 19 rs10405231
dbSNP Clinvar 		55856211 2715.46 C T PASS 0/1 105 SYNONYMOUS_CODING LOW SILENT 0.49241 0.49240 0.40018 None None None None None None SUV420H2|0.012688919|78.75%

AC024592.12
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 mm210206egs 19 rs778971
dbSNP Clinvar 		5867748 15463.09 G T PASS 1/1 246 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.63878 0.63880 0.46529 0.09 0.65 None None None None None None FUT5|0.001156471|94.68%

AC025278.1
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 mm210206egs 19 rs7249689
dbSNP Clinvar 		7011860 1738.88 G C PASS 0|1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15216 0.15220 1.00 0.00 None None None None None None None
View mm210206egs 19 rs114601404
dbSNP Clinvar 		7011858 1738.88 C G PASS 0|1 116 SYNONYMOUS_CODING LOW SILENT 0.15216 0.15220 None None None None None None None
View mm210206egs 19 rs546207896
dbSNP Clinvar 		7011878 1578.88 C A PASS 0|1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15216 0.15220 0.04 0.01 None None None None None None None
View mm210206egs 19 rs7254322
dbSNP Clinvar 		7011826 1708.88 T C PASS 0/1 155 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15455 0.15460 0.92 0.79 None None None None None None None

AC074212.3
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 mm210206egs 19 rs139434566
dbSNP Clinvar 		46265047 5572.5 A AT... PASS 0/1 146 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None
View mm210206egs 19 rs8112282
dbSNP Clinvar 		46265029 4899.46 C T PASS 0/1 200 SYNONYMOUS_CODING LOW SILENT 0.53674 0.53670 None None None None None None None

ACPT
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 mm210206egs 19 rs750637211
dbSNP Clinvar 		51293713 1564.88 CCTG C PASS 0/1 75 CODON_DELETION MODERATE 0.02972 None None None None None None ACPT|0.016239372|76.31%

ACSBG2
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 mm210206egs 19 rs4807840
dbSNP Clinvar 		6156483 1226.88 T C PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71206 0.71210 0.29994 1.00 0.00 None None None None None None RFX2|0.09042428|53.13%,ACSBG2|0.002277408|90.23%

ACTL9
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 mm210206egs 19 rs10410943
dbSNP Clinvar 		8808900 6642.09 A G PASS 1/1 168 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.27926 1.00 0.00 None None None None None None ACTL9|0.004666462|86.26%
View mm210206egs 19 rs4804079
dbSNP Clinvar 		8808373 5377.46 G T PASS 0/1 220 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60004 0.60000 0.47201 0.51 0.87 None None None None None None ACTL9|0.004666462|86.26%
View mm210206egs 19 rs2340550
dbSNP Clinvar 		8808942 6685.09 A G PASS 1/1 165 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.79173 0.79170 0.28447 0.56 0.00 None None None None None None ACTL9|0.004666462|86.26%

ACTN4
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 mm210206egs 19 rs1136956
dbSNP Clinvar 		39219780 1694.88 T C PASS 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.18750 0.18750 0.21375 None None None None None None ACTN4|0.387377198|21.58%
View mm210206egs 19 rs12986337
dbSNP Clinvar 		39215172 2803.88 T C PASS 0/1 251 SYNONYMOUS_CODING LOW SILENT 0.06909 0.06909 0.05790 None None None None None None ACTN4|0.387377198|21.58%

ADAMTS10
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 mm210206egs 19 rs114628276
dbSNP Clinvar 		8669981 1999.88 C T PASS 0/1 167 SYNONYMOUS_CODING LOW SILENT 0.00080 0.00080 0.00146 None None None None None None ADAMTS10|0.099701531|51.23%
View mm210206egs 19 rs11882422
dbSNP Clinvar 		8656994 1962.88 G C PASS 0/1 173 None None None 0.02895 0.02895 0.02601 0.02 0.01 None None None None None None ADAMTS10|0.099701531|51.23%
View mm210206egs 19 rs7255721
dbSNP Clinvar 		8669931 7635.09 G C PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.89397 0.89400 0.21830 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%
View mm210206egs 19 rs7252299
dbSNP Clinvar 		8645786 5690.09 A C PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99980 0.99980 0.00015 1.00 0.00 None None None None None None ADAMTS10|0.099701531|51.23%

ADAMTSL5
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 mm210206egs 19 rs184723547
dbSNP Clinvar 		1506220 1606.88 G A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00319 0.00320 0.00015 0.04 0.66 None None None None None None ADAMTSL5|0.011039552|80.05%
View mm210206egs 19 rs265291
dbSNP Clinvar 		1510661 3787.09 A G PASS 1/1 60 SYNONYMOUS_CODING LOW SILENT 0.93570 0.93570 0.06900 None None None None None None ADAMTSL5|0.011039552|80.05%

ADAT3
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 mm210206egs 19 rs12984675
dbSNP Clinvar 		1912934 16915.09 T C PASS 0/1 429 SYNONYMOUS_CODING LOW SILENT 0.36322 0.36320 0.24623 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%
View mm210206egs 19 rs35870594
dbSNP Clinvar 		1912817 17960.09 C T PASS 0/1 485 SYNONYMOUS_CODING LOW SILENT 0.09645 0.09645 0.04464 None None None None None None SCAMP4|0.018776981|74.82%,ADAT3|0.006291951|84.29%

ADCK4
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 mm210206egs 19 rs3865452
dbSNP Clinvar 		41211056 1338.88 T C PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47744 0.47740 0.45248 0.53 0.00 None None None None None None ADCK4|0.043749388|64.59%

ADM5
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 mm210206egs 19 rs76806983
dbSNP Clinvar 		50193109 2858.88 C A PASS 0/1 305 SYNONYMOUS_CODING LOW SILENT 0.02636 0.02636 0.02203 None None None None None None ADM5|0.000967533|95.66%

AES
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 mm210206egs 19 rs2302301
dbSNP Clinvar 		3054089 520.83 C T PASS 1/1 15 None None None 0.15136 0.15140 0.65 0.00 None None None None None None AES|0.064359463|58.79%
View mm210206egs 19 rs11539938
dbSNP Clinvar 		3062857 2515.46 T C PASS 0/1 128 SYNONYMOUS_CODING LOW SILENT 0.38538 0.38540 0.35080 None None None None None None AES|0.064359463|58.79%

AKAP8L
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 mm210206egs 19 rs2058322
dbSNP Clinvar 		15508362 5238.09 G C PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.71 0.00 None None None None None None AKAP8L|0.140468826|44.33%

ALDH16A1
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 mm210206egs 19 rs10853810
dbSNP Clinvar 		49969085 2614.88 C T PASS 0/1 173 SYNONYMOUS_CODING LOW SILENT 0.20927 0.20930 0.33884 None None None None None None ALDH16A1|0.021103617|73.62%
View mm210206egs 19 rs11558188
dbSNP Clinvar 		49967981 2080.88 T G PASS 0/1 171 SYNONYMOUS_CODING LOW SILENT 0.20986 0.20990 0.33692 None None None None None None ALDH16A1|0.021103617|73.62%
View mm210206egs 19 rs2293009
dbSNP Clinvar 		49967680 1787.88 G A PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31150 0.31150 0.32921 None None None None None None ALDH16A1|0.021103617|73.62%
View mm210206egs 19 rs7259560
dbSNP Clinvar 		49965173 1059.88 A T PASS 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.30092 0.30090 0.32176 None None None None None None ALDH16A1|0.021103617|73.62%
View mm210206egs 19 rs1320303
dbSNP Clinvar 		49964977 1503.88 C G PASS 0/1 177 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.51018 0.51020 0.34881 1.00 0.00 None None None None None None ALDH16A1|0.021103617|73.62%

AMH
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 mm210206egs 19 rs10407022
dbSNP Clinvar 		2249477 9336.09 G T PASS 1/1 150 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67592 0.67590 0.26055 0.00 0.37 None None None None None None AMH|0.062219269|59.26%
View mm210206egs 19 rs10417628
dbSNP Clinvar 		2251817 21113.09 T C PASS 1/1 423 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99002 0.99000 0.01798 0.77 0.00 None None None None None None AMH|0.062219269|59.26%
View mm210206egs 19 rs7252789
dbSNP Clinvar 		2251512 4692.09 T A PASS 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.91893 0.91890 None None None None None None AMH|0.062219269|59.26%

ANGPTL4
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 mm210206egs 19 rs10404615
dbSNP Clinvar 		8436288 5126.88 C T PASS 0/1 422 SYNONYMOUS_CODING LOW SILENT 0.03994 0.03994 0.03853 None None None None None None ANGPTL4|0.044628099|64.29%
View mm210206egs 19 rs35571542
dbSNP Clinvar 		8434185 372.88 G A PASS 0/1 25 SYNONYMOUS_CODING LOW SILENT 0.03634 0.03634 0.03398 None None None None None None ANGPTL4|0.044628099|64.29%

ANKLE1
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 mm210206egs 19 rs751599
dbSNP Clinvar 		17396549 2709.46 T C PASS 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19937 None None None None None None ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs770831114
dbSNP Clinvar 		17392742 885.88 G T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11 0.01 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs8108174
dbSNP Clinvar 		17393530 2174.46 T A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.43206 0.01 1.00 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs2363956
dbSNP Clinvar 		17394124 3181.46 T G PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46066 0.46070 0.48747 0.03 1.00 None None None None None None ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs891017
dbSNP Clinvar 		17394504 8712.46 A C PASS 0/1 470 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.19952 0.48 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs1864113
dbSNP Clinvar 		17393504 1940.46 G C PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.16019 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs1864116
dbSNP Clinvar 		17393015 828.46 C T PASS 0/1 27 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63538 0.63540 0.13051 0.21 0.02 None None None None None None USHBP1|0.004297284|86.6%,ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs1465582
dbSNP Clinvar 		17397501 2695.28 T G PASS 0/1 105 None None None 0.31590 0.31590 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs11086065
dbSNP Clinvar 		17395003 3054.46 A G PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63518 0.63520 0.19914 1.00 0.00 None None None None None None ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs764791116
dbSNP Clinvar 		17397456 596.52 GGT G PASS 0/1 64 None None None None None None None None None ANKLE1|0.002494569|89.7%
View mm210206egs 19 rs11882562
dbSNP Clinvar 		17395055 1974.46 C G PASS 0/1 83 SYNONYMOUS_CODING LOW SILENT 0.63538 0.63540 0.19922 None None None None None None ANKLE1|0.002494569|89.7%

ANKRD24
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 mm210206egs 19 rs353693
dbSNP Clinvar 		4217207 6011.09 T G PASS 1/1 144 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.97504 0.97500 0.05681 1.00 0.00 None None None None None None ANKRD24|0.006993334|83.48%
View mm210206egs 19 rs6510794
dbSNP Clinvar 		4217956 738.88 A G PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.45048 0.45050 0.37911 None None None None None None ANKRD24|0.006993334|83.48%
View mm210206egs 19 rs28615978
dbSNP Clinvar 		4198169 291.88 C T PASS 0/1 47 SYNONYMOUS_CODING LOW SILENT 0.15635 0.15630 None None None None None None ANKRD24|0.006993334|83.48%
View mm210206egs 19 rs58333777
dbSNP Clinvar 		4217587 221.88 G A PASS 0/1 14 SYNONYMOUS_CODING LOW SILENT 0.33387 0.33390 None None None None None None ANKRD24|0.006993334|83.48%
View mm210206egs 19 rs45510899
dbSNP Clinvar 		4216318 2383.88 G T PASS 0/1 197 SYNONYMOUS_CODING LOW SILENT 0.05351 0.05351 0.08584 None None None None None None ANKRD24|0.006993334|83.48%
View mm210206egs 19 rs10413818
dbSNP Clinvar 		4216910 4620.09 G A PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71166 0.71170 0.27616 0.11 0.00 None None None None None None ANKRD24|0.006993334|83.48%

ANKRD27
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 mm210206egs 19 rs6510271
dbSNP Clinvar 		33117666 9146.09 T C PASS 1/1 140 SYNONYMOUS_CODING LOW SILENT 0.65196 0.65200 0.34084 None None None None None None ANKRD27|0.115031878|48.32%
View mm210206egs 19 rs2287669
dbSNP Clinvar 		33110204 3427.09 T C PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46026 0.46030 0.44710 0.22 0.08 None None None None None None ANKRD27|0.115031878|48.32%
View mm210206egs 19 rs405858
dbSNP Clinvar 		33106621 4617.09 C T PASS 1/1 80 SYNONYMOUS_CODING LOW SILENT 0.48083 0.48080 0.38974 None None None None None None ANKRD27|0.115031878|48.32%
View mm210206egs 19 rs2302970
dbSNP Clinvar 		33098632 3466.09 G C PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26518 0.26520 0.41619 0.79 0.01 None None None None None None ANKRD27|0.115031878|48.32%
View mm210206egs 19 rs7248273
dbSNP Clinvar 		33096816 852.88 C T PASS 0/1 68 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.18151 0.18150 0.15424 None None None None None None ANKRD27|0.115031878|48.32%
View mm210206egs 19 rs7247420
dbSNP Clinvar 		33096786 771.88 G A PASS 0/1 62 SYNONYMOUS_CODING LOW SILENT 0.23463 0.23460 0.18653 None None None None None None ANKRD27|0.115031878|48.32%

ANO8
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 mm210206egs 19 rs755123
dbSNP Clinvar 		17435884 6759.46 T C PASS 0/1 234 SYNONYMOUS_CODING LOW SILENT 0.61881 0.61880 0.24758 None None None None None None ANO8|0.037387399|66.65%
View mm210206egs 19 rs8102944
dbSNP Clinvar 		17438642 8315.46 A G PASS 0/1 365 SYNONYMOUS_CODING LOW SILENT 0.62181 0.62180 0.24289 None None None None None None ANO8|0.037387399|66.65%

AP2S1
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 mm210206egs 19 rs312185
dbSNP Clinvar 		47342867 3727.46 A C PASS 0/1 182 None None None 0.59066 0.59070 0.48962 0.72 0.00 None None None None None None AP2S1|0.194093268|37.41%

AP3D1
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 mm210206egs 19 rs25672
dbSNP Clinvar 		2138654 5318.09 T G PASS 1/1 135 SYNONYMOUS_CODING LOW SILENT 0.23642 0.23640 0.33769 None None None None None None AP3D1|0.055098943|61.17%

APBA3
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 mm210206egs 19 rs34868972
dbSNP Clinvar 		3753874 4030.88 G A PASS 0/1 356 SYNONYMOUS_CODING LOW SILENT 0.09185 0.09185 0.11926 None None None None None None APBA3|0.009354531|81.41%
View mm210206egs 19 rs61735536
dbSNP Clinvar 		3752515 514.88 G A PASS 0/1 38 SYNONYMOUS_CODING LOW SILENT 0.17193 0.17190 0.08882 None None None None None None APBA3|0.009354531|81.41%
View mm210206egs 19 rs8102086
dbSNP Clinvar 		3752874 5900.09 A G PASS 1/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04153 0.04153 0.49646 0.23 0.00 None None None None None None APBA3|0.009354531|81.41%
View mm210206egs 19 rs3746120
dbSNP Clinvar 		3753769 2744.88 C T PASS 0/1 275 SYNONYMOUS_CODING LOW SILENT 0.34006 0.34010 0.32226 None None None None None None APBA3|0.009354531|81.41%

APC2
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 mm210206egs 19 rs78476902
dbSNP Clinvar 		1453308 2600.88 G A PASS 0/1 158 SYNONYMOUS_CODING LOW SILENT 0.01318 0.01318 0.00039 None None None None None None APC2|0.091060491|53.03%
View mm210206egs 19 rs143870588
dbSNP Clinvar 		1457002 1805.88 G C PASS 0/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00599 0.00599 0.00809 0.01 0.74 None None None None None None APC2|0.091060491|53.03%
View mm210206egs 19 rs265273
dbSNP Clinvar 		1467684 8901.09 A C PASS 1/1 110 SYNONYMOUS_CODING LOW SILENT 0.97584 0.97580 None None None None None None APC2|0.091060491|53.03%,C19orf25|0.004133103|86.83%

APOE
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 mm210206egs 19 rs440446
dbSNP Clinvar 		45409167 2288.44 C G PASS 1/1 72 None None None 0.62620 0.62620 0.00 None None None None None None APOE|0.925476831|2.86%

ARHGAP33
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 mm210206egs 19 rs114957589
dbSNP Clinvar 		36277637 832.88 C T PASS 0/1 71 SYNONYMOUS_CODING LOW SILENT 0.04493 0.04493 None None None None None None ARHGAP33|0.074124913|56.5%
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