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
RS1557917535 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS1557917899 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS1557918544 GNAT2 Health Risk Likely pathogenic Achromatopsia 4, Retinal dystrophy
RS1557918619 GNAT2 Health Risk Pathogenic Achromatopsia 4, Cone dystrophy
RS1557918635 GNAT2 Health Risk Likely pathogenic Achromatopsia 4, Retinal dystrophy
RS1557918638 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia
RS1557918911 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS1557920291 GNAT2 Health Risk Pathogenic Achromatopsia 4, Achromatopsia 4
RS1557932876 COL11A1 Health Risk Likely pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS1557935477 POGZ Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1557943002 PRG4 Health Risk Pathogenic Camptodactyly-arthropathy-coxa vara-pericarditis syndrome, Camptodactyly-arthropathy-coxa vara-pericarditis syndrome
RS1557943881 DBT Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease
RS1557946006 FMO3 Health Risk Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS1557946448 ASPM Health Risk Pathogenic/Likely pathogenic Microcephaly 5, primary
RS1557948192 EPB41 Health Risk Pathogenic/Likely pathogenic —
RS1557948590 EPB41 Health Risk Pathogenic —
RS1557956678 DBT Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS1557959906 PKLR Health Risk Pathogenic —
RS1557960039 RIT1 Health Risk Likely pathogenic Noonan syndrome 8, Noonan syndrome
RS1557960450 ASPM Health Risk Likely pathogenic —
RS1557961718 SPTA1 Health Risk Pathogenic Pyropoikilocytosis, hereditary
RS1557962699 RIT1 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 8, Noonan syndrome 1
RS1557962794 RIT1 Health Risk Pathogenic Noonan syndrome 8, Noonan syndrome 1
RS1557966012 ASPM Health Risk Pathogenic Microcephaly 5, primary
RS1557967748 KCNJ10 Health Risk Pathogenic EAST syndrome, EAST syndrome
RS1557977732 KCNQ4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS1557978852 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1557982817 NRAS Health Risk Likely pathogenic —
RS1557988499 NEXN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1CC, Hypertrophic cardiomyopathy 20
RS1557990893 NEXN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, NEXN-related disorder
RS1557995369 ATF6 Health Risk Pathogenic —
RS1557998187 NEXN Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS1557999318 GORAB Health Risk Pathogenic/Likely pathogenic Geroderma osteodysplastica, Geroderma osteodysplastica
RS1558003446 ATP1A2 Health Risk Pathogenic Polymicrogyria, Fetal akinesia
RS1558004538 GORAB Health Risk Pathogenic —
RS1558005340 ATP1A2 Health Risk Pathogenic Fetal akinesia, respiratory insufficiency
RS1558006532 GORAB Health Risk Pathogenic/Likely pathogenic —
RS1558008455 ATP1A2 Health Risk Pathogenic Fetal akinesia, respiratory insufficiency
RS1558008759 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1558009266 ATP1A2 Health Risk Likely pathogenic Alternating hemiplegia of childhood 1, Migraine
RS1558010146 ATP1A2 Health Risk Pathogenic Polymicrogyria, Fetal akinesia
RS1558014211 DPYD Health Risk Likely pathogenic Dihydropyrimidine dehydrogenase deficiency, Dihydropyrimidine dehydrogenase deficiency
RS1558014576 KCNQ4 Health Risk Likely pathogenic Autosomal dominant nonsyndromic hearing loss 2A, Autosomal dominant nonsyndromic hearing loss 2A
RS1558020021 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS1558022158 ATF6 Health Risk Likely pathogenic Achromatopsia 7, Achromatopsia 7
RS1558023357 ASH1L Health Risk Pathogenic —
RS1558027212 TMCO1 Health Risk Likely pathogenic —
RS1558033572 PPOX Health Risk Likely pathogenic Variegate porphyria, Variegate porphyria
RS1558033881 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1558036860 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1558037018 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1558038124 USH2A Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1558038218 IRF6 Health Risk Pathogenic Popliteal pterygium syndrome, Orofacial cleft 6
RS1558039371 ASH1L Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1558049084 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1558051141 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS1558053119 EDEM3 Health Risk Likely pathogenic Short stature, Short stature
RS1558054304 EDEM3 Health Risk Likely pathogenic Congenital disorder of glycosylation, type 2v
RS1558056376 CACNA1S Health Risk Pathogenic/Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1558056827 CD46 Health Risk Pathogenic Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly, Atypical hemolytic-uremic syndrome
RS1558057153 CRB1 Health Risk Pathogenic Leber congenital amaurosis 8, Leber congenital amaurosis 8
RS1558067283 CACNA1S Health Risk Likely pathogenic Hypokalemic periodic paralysis, type 1
RS1558071742 CACNA1S Health Risk Pathogenic Hypokalemic periodic paralysis, type 1
RS1558075630 CACNA1S Health Risk Likely pathogenic —
RS1558078416 USH2A Health Risk Pathogenic Usher syndrome type 2, Usher syndrome type 2
RS1558079311 CACNA1S Health Risk Conflicting classifications of pathogenicity Hypokalemic periodic paralysis, type 1
RS1558079436 DDR2 Health Risk Pathogenic/Likely pathogenic Warburg-cinotti syndrome, Warburg-cinotti syndrome
RS1558080206 KIF14 Health Risk Pathogenic Microcephaly 20, primary
RS1558081384 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1558081605 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1558081624 ACTA1 Health Risk Pathogenic/Likely pathogenic Actin accumulation myopathy, Congenital myopathy
RS1558081664 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, ACTA1-related disorder
RS1558081797 ACTA1 Health Risk Conflicting classifications of pathogenicity Actin accumulation myopathy, Congenital myopathy 2c
RS1558081804 ACTA1 Health Risk Likely pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1558081965 USH2A Health Risk Pathogenic —
RS1558082053 ACTA1 Health Risk Pathogenic Actin accumulation myopathy, Actin accumulation myopathy
RS1558085343 KIF14 Health Risk Likely pathogenic —
RS1558085770 CAMTA1 Health Risk Likely pathogenic Cerebellar dysfunction with variable cognitive and behavioral abnormalities, Cerebellar dysfunction with variable cognitive and behavioral abnormalities
RS1558087712 ARF1 Health Risk Pathogenic/Likely pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS1558087795 ARF1 Health Risk Pathogenic Periventricular nodular heterotopia 8, Periventricular nodular heterotopia 8
RS1558088792 LAMC2 Health Risk Pathogenic Epidermolysis bullosa, junctional 3A
RS1558089869 LAMC2 Health Risk Pathogenic —
RS1558091788 NUP133 Health Risk Likely pathogenic Nephrotic syndrome, type 18
RS1558092113 PTPN14 Health Risk Pathogenic Lymphedema-posterior choanal atresia syndrome, Lymphedema-posterior choanal atresia syndrome
RS1558092158 LAMC2 Health Risk Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS1558092501 LAMC2 Health Risk Pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Epidermolysis bullosa
RS1558092897 NCF2 Health Risk Likely pathogenic Granulomatous disease, chronic
RS1558095403 USH2A Health Risk Pathogenic —
RS1558095794 LAMC2 Health Risk Pathogenic Epidermolysis bullosa, junctional 3B
RS1558095864 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1558096194 EMC1 Health Risk Pathogenic EMC1-related disorder, EMC1-related disorder
RS1558098982 NCF2 Health Risk Pathogenic Granulomatous disease, chronic
RS1558102448 COA7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS1558102464 COA7 Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS1558103974 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS1558104145 FLVCR1 Health Risk Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1558104865 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1558105252 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS1558105796 ASH1L Health Risk Pathogenic —
RS1558108130 NUP133 Health Risk Likely pathogenic Nephrotic syndrome, type 18
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