SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS768615420 COG7 Health Risk Pathogenic/Likely pathogenic COG7 congenital disorder of glycosylation, COG7 congenital disorder of glycosylation
RS768615942 SEC63 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic liver disease, Polycystic liver disease 2
RS768616413 LYST Health Risk Conflicting classifications of pathogenicity Chédiak-Higashi syndrome, Chédiak-Higashi syndrome
RS768618504 HAO1 Health Risk Pathogenic glycolate oxidase deficiency, glycolate oxidase deficiency
RS768619008 C2CD3 Health Risk Conflicting classifications of pathogenicity Orofaciodigital syndrome type 14, Orofaciodigital syndrome type 14
RS768619553 USH2A Health Risk Conflicting classifications of pathogenicity —
RS768620121 DNAH1 Health Risk Conflicting classifications of pathogenicity Spermatogenic failure 18, Ciliary dyskinesia
RS768620276 OTOGL Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84B, Autosomal recessive nonsyndromic hearing loss 84B
RS768620796 NIPBL Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Cornelia de Lange syndrome 1
RS768621451 MYH2 Health Risk Conflicting classifications of pathogenicity Myopathy, proximal
RS768621478 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS768621570 TREM2 Health Risk Likely pathogenic —
RS768622377 ANKRD26 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768622457 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS768622577 WNK1 Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS768623382 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS768624733 TSC1 Health Risk Conflicting classifications of pathogenicity Acute myeloid leukemia, Tuberous sclerosis 1
RS768625959 TRIOBP Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 28, Rare genetic deafness
RS768626277 COL12A1 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS768626471 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS768626850 CRTAP Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 7, Osteogenesis imperfecta type 7
RS768627036 MET Health Risk Conflicting classifications of pathogenicity Renal cell carcinoma, Hereditary cancer-predisposing syndrome
RS768627073 EGFR Health Risk Conflicting classifications of pathogenicity EGFR-related lung cancer, Hereditary cancer-predisposing syndrome
RS768627742 FRAS1 Health Risk Pathogenic —
RS768627748 RINT1 Health Risk Conflicting classifications of pathogenicity —
RS768628788 DSP Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS76862973 BMPR2 Health Risk Pathogenic Primary pulmonary hypertension, Primary pulmonary hypertension
RS768629906 CDK5RAP2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768630906 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS768631076 SETD5 Health Risk Conflicting classifications of pathogenicity Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency, Inborn genetic diseases
RS768632138 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Very long chain acyl-CoA dehydrogenase deficiency
RS768632277 EXOC3L2 Health Risk Conflicting classifications of pathogenicity —
RS768632287 TTN Health Risk Conflicting classifications of pathogenicity —
RS768633670 PIGP Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 55
RS768635008 SETD5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768635501 FLNC Health Risk Conflicting classifications of pathogenicity Dilated Cardiomyopathy, Dominant
RS768636289 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2O
RS768636898 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS768636940 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS768638173 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS768638174 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS768638405 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 4, Hypertrophic cardiomyopathy
RS768638466 LRP5 Health Risk Conflicting classifications of pathogenicity LRP5-related disorder, LRP5-related disorder
RS768640639 ANO10 Health Risk Pathogenic —
RS768640920 CYP2U1 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Hereditary spastic paraplegia 56
RS768641298 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS768641921 PIK3R2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
RS768642155 JAG1 Health Risk Conflicting classifications of pathogenicity Isolated Nonsyndromic Congenital Heart Disease, Alagille syndrome due to a JAG1 point mutation
RS768642194 POLD1 Health Risk Conflicting classifications of pathogenicity Colorectal cancer, susceptibility to
RS768642690 SHROOM2 Health Risk Conflicting classifications of pathogenicity —
RS768643110 MYO6 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 37, Autosomal dominant nonsyndromic hearing loss 22
RS768643552 PMPCA Health Risk Pathogenic 13 conditions, 13 conditions
RS768643771 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS768643868 PRDM12 Health Risk Likely pathogenic —
RS768644134 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS768646066 DNAH3 Health Risk Pathogenic Spermatogenic failure 18, Spermatogenic failure 18
RS768647514 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Bardet-Biedl syndrome
RS768647693 SCN11A Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 7, Inborn genetic diseases
RS768648043 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS768649832 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Stickler syndrome type 2
RS768650092 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Chuvash polycythemia
RS768651632 NT5C2 Health Risk Pathogenic Hereditary spastic paraplegia 45, Hereditary spastic paraplegia 45
RS768652249 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS768652299 MYOD1 Health Risk Pathogenic Myopathy, congenital
RS768652560 PDE6B Health Risk Conflicting classifications of pathogenicity Congenital stationary night blindness autosomal dominant 2, Retinitis pigmentosa
RS768652751 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS768654673 RPL11 Health Risk Conflicting classifications of pathogenicity Diamond-Blackfan anemia 7, Diamond-Blackfan anemia
RS768656482 DPAGT1 Health Risk Pathogenic Congenital myasthenic syndrome 13, DPAGT1-congenital disorder of glycosylation
RS768656544 PPP1R12A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768656789 SLC26A3 Health Risk Pathogenic Congenital secretory diarrhea, chloride type
RS768657630 GLIS3 Health Risk Conflicting classifications of pathogenicity Neonatal diabetes mellitus with congenital hypothyroidism, Inborn genetic diseases
RS768660050 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS768660365 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Autosomal recessive polycystic kidney disease
RS768660614 IMPG2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS768661914 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS768662424 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS768663340 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome 1
RS768663992 CLUAP1 Health Risk Likely pathogenic Joubert syndrome, Joubert syndrome
RS768664270 GALNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-IV-A
RS768665395 SYNE2 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 5, autosomal dominant
RS768665565 HTRA1 Health Risk Conflicting classifications of pathogenicity —
RS768667071 CPT1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS768667646 SNTA1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS768668529 DYNC1H1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2O, Inborn genetic diseases
RS768668962 ANKRD26 Health Risk Conflicting classifications of pathogenicity Thrombocytopenia 2, Thrombocytopenia 2
RS768670249 NBN Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency
RS768671057 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS768671254 COL3A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, type 4
RS768671894 ATP7B Health Risk Pathogenic Wilson disease, Wilson disease
RS768672234 KIF1B Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease
RS768672275 RPGRIP1L Health Risk Conflicting classifications of pathogenicity Joubert syndrome 7, Nephronophthisis 8
RS768674116 XRCC2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS768674400 ATP13A2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spastic paraplegia type 78, Kufor-Rakeb syndrome
RS768675259 CPLANE1 Health Risk Pathogenic Joubert syndrome 17, Joubert syndrome 17
RS768675931 IFT81 Health Risk Pathogenic —
RS768677542 INVS Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS768678989 MET Health Risk Conflicting classifications of pathogenicity Papillary renal cell carcinoma type 1, Hereditary cancer-predisposing syndrome
RS768679543 FBXL4 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome 13, Mitochondrial DNA depletion syndrome 13
RS768679590 NEFH Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS768682214 PCARE Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
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