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
RS1845890672 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1845894076 IFITM5 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1845899274 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845899655 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS1845931432 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1845932297 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1845934094 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, TSC1-related disorder
RS1845955010 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS1846003590 TSC1 Health Risk Pathogenic —
RS1846004910 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846010451 TSC1 Health Risk Pathogenic/Likely pathogenic Lymphangiomyomatosis, Tuberous sclerosis 1
RS1846011821 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846020610 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, TSC1-related disorder
RS184603559 TMC1 Health Risk Conflicting classifications of pathogenicity —
RS184604359 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS184605839 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS184606223 COL11A1 Health Risk Conflicting classifications of pathogenicity Fibrochondrogenesis 1, COL11A1-related disorder
RS1846062683 NHLRC2 Health Risk Pathogenic Fibrosis, neurodegeneration
RS1846089676 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1846092532 KAT6B Health Risk Likely pathogenic Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
RS1846095407 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1846100784 KAT6B Health Risk Likely pathogenic Autosomal dominant KAT6B-related disorders, Autosomal dominant KAT6B-related disorders
RS1846105381 HPS1 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1846107943 KAT6B Health Risk Pathogenic —
RS1846110840 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS184612047 CLTCL1 Health Risk Conflicting classifications of pathogenicity —
RS1846135896 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Genitopatellar syndrome
RS1846142065 ASS1 Health Risk Pathogenic Citrullinemia type I, Citrullinemia type I
RS1846142146 ASS1 Health Risk Pathogenic Citrullinemia, Citrullinemia
RS1846146030 TH Health Risk Pathogenic/Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS1846150514 KAT6B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1846156925 HPS1 Health Risk Pathogenic —
RS1846158787 HPS1 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS184617787 COL6A3 Health Risk Conflicting classifications of pathogenicity Collagen 6-related myopathy, Bethlem myopathy 1A
RS1846182844 KAT6B Health Risk Likely pathogenic Chromatinopathy, Chromatinopathy
RS1846202659 TH Health Risk Likely pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS184620420 GCM2 Health Risk Conflicting classifications of pathogenicity Familial hypoparathyroidism, GCM2-related disorder
RS1846247159 KAT6B Health Risk Pathogenic Intellectual disability, Intellectual disability
RS184625125 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Arrhythmogenic right ventricular dysplasia 2
RS1846260900 KAT6B Health Risk Conflicting classifications of pathogenicity Genitopatellar syndrome, Genitopatellar syndrome
RS1846263622 TH Health Risk Pathogenic Autosomal recessive DOPA responsive dystonia, Autosomal recessive DOPA responsive dystonia
RS184629690 GABRA1 Health Risk Conflicting classifications of pathogenicity Epilepsy, idiopathic generalized
RS184634552 ATP6AP2 Health Risk Conflicting classifications of pathogenicity Syndromic X-linked intellectual disability Hedera type, Inborn genetic diseases
RS184635412 FREM2 Health Risk Conflicting classifications of pathogenicity Fraser syndrome 2, Microcephaly
RS184636161 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS1846383965 PAH Health Risk Likely pathogenic Phenylketonuria, Phenylketonuria
RS1846391609 ASS1 Health Risk Conflicting classifications of pathogenicity Citrullinemia type I, Citrullinemia type I
RS184643087 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS184644658 PCARE Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Retinal dystrophy
RS184647895 HERC2 Health Risk Conflicting classifications of pathogenicity Developmental delay with autism spectrum disorder and gait instability, Developmental delay with autism spectrum disorder and gait instability
RS184649564 CYP21A2;LOC106780800;TNXB Health Risk Conflicting classifications of pathogenicity ADRENAL HYPERPLASIA, CONGENITAL
RS1846512047 CWF19L1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS1846514750 CWF19L1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS1846531969 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS1846542419 KCNQ1 Health Risk Pathogenic Long QT syndrome 1, Long QT syndrome 1
RS1846543630 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846545578 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846550204 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS184657475 BLM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1846577619 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846585365 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846593189 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1846609262 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS184666602 MME Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 43, Spinocerebellar ataxia 43
RS1846669447 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846671274 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846671628 TSC1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neoplasm
RS1846672141 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846678053 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis syndrome
RS1846682853 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846685026 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS1846685279 TSC1 Health Risk Pathogenic/Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846687897 ASS1 Health Risk Likely pathogenic Citrullinemia, Citrullinemia
RS1846693029 DLG5 Health Risk Pathogenic —
RS184670366 ROR2 Health Risk Conflicting classifications of pathogenicity Brachydactyly type B1, Autosomal recessive Robinow syndrome
RS1846716158 KCNQ1 Health Risk Likely pathogenic Jervell and Lange-Nielsen syndrome 1, Jervell and Lange-Nielsen syndrome 1
RS1846719993 KCNQ1 Health Risk Likely pathogenic Long QT syndrome, Jervell and Lange-Nielsen syndrome
RS1846720105 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Cardiovascular phenotype
RS1846743506 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome 1
RS1846753757 CD151 Health Risk Pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness
RS184676617 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS1846769659 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846799593 CWF19L1 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS184680258 IFT80 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Connective tissue disorder
RS1846806279 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846813509 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846822085 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS184684058 CACNA1C Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS1846841530 CD151 Health Risk Likely pathogenic Epidermolysis bullosa simplex 7, with nephropathy and deafness
RS1846844070 BAG3 Health Risk Pathogenic/Likely pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1846848656 VPS13B Health Risk Pathogenic/Likely pathogenic Cohen syndrome, Cohen syndrome
RS1846880706 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1846883652 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1846888303 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Dilated cardiomyopathy 1C
RS1846890164 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Cardiovascular phenotype
RS1846915941 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS1846916239 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS184692105 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS1846922474 HPS1 Health Risk Pathogenic Hermansky-Pudlak syndrome 1, Hermansky-Pudlak syndrome 1
RS1846926218 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
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