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
RS193929331 KRAS Health Risk Likely pathogenic Noonan syndrome 3, RASopathy
RS193929352 KCNJ11 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Transitory neonatal diabetes mellitus
RS193929355 KCNJ11 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Diabetes mellitus
RS193929356 KCNJ11 Health Risk Pathogenic/Likely pathogenic Permanent neonatal diabetes mellitus, Neonatal insulin-dependent diabetes mellitus
RS193929358 KCNJ11 Health Risk Likely pathogenic Neonatal diabetes mellitus, Neonatal diabetes mellitus
RS193929360 ABCC8 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Diabetes mellitus
RS193929366 ABCC8 Health Risk Pathogenic Permanent neonatal diabetes mellitus, Permanent neonatal diabetes mellitus
RS193929373 GCK Health Risk Pathogenic Permanent neonatal diabetes mellitus, Monogenic diabetes
RS193929374 GCK Health Risk Pathogenic Permanent neonatal diabetes mellitus, Monogenic diabetes
RS193929375 GCK Health Risk Likely pathogenic Permanent neonatal diabetes mellitus, Monogenic diabetes
RS193929376 GCK Health Risk Pathogenic Permanent neonatal diabetes mellitus, Monogenic diabetes
RS193929377 PDX1 Health Risk Conflicting classifications of pathogenicity Permanent neonatal diabetes mellitus, Pancreatic agenesis 1
RS193929390 CATSPER1 Health Risk Pathogenic Spermatogenic failure 7, Spermatogenic failure 7
RS193929391 CATSPER1 Health Risk Pathogenic Spermatogenic failure 7, Spermatogenic failure 7
RS1939295073 DHH Health Risk Pathogenic 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome
RS1939296210 DHH Health Risk Pathogenic 46, XY gonadal dysgenesis-motor and sensory neuropathy syndrome
RS1939312423 COL2A1 Health Risk Pathogenic Retinal dystrophy, Stickler syndrome type 1
RS1939319350 COL2A1 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia, Strudwick type
RS1939319603 COL2A1 Health Risk Pathogenic —
RS1939320461 COL2A1 Health Risk Pathogenic —
RS1939349946 COL2A1 Health Risk Likely pathogenic —
RS1939382793 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS1939401816 CLSTN3 Health Risk association Autism spectrum disorder, Autism spectrum disorder
RS1939412490 COL2A1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1939445848 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS1939463507 COL2A1 Health Risk Likely pathogenic Spondyloperipheral dysplasia, Spondyloperipheral dysplasia
RS1939486740 ATL3 Health Risk Pathogenic Neuropathy, hereditary sensory
RS1939496203 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS1939497801 AMHR2 Health Risk Pathogenic Persistent mullerian duct syndrome, type II
RS1939498274 CREB3L1 Health Risk Likely pathogenic Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16
RS1939508698 CREB3L1 Health Risk Pathogenic Osteogenesis imperfecta type 16, Osteogenesis imperfecta type 16
RS1939543636 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1939561839 NPHP3 Health Risk Conflicting classifications of pathogenicity Nephronophthisis 3, Nephronophthisis
RS1939584878 COL2A1 Health Risk Likely pathogenic COL2A1-related disorder, COL2A1-related disorder
RS1939594732 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS1939615464 COL2A1 Health Risk Conflicting classifications of pathogenicity Spondyloepiphyseal dysplasia congenita, Spondyloepiphyseal dysplasia congenita
RS1939617011 COL2A1 Health Risk Likely pathogenic Spondylometaphyseal dysplasia - Sutcliffe type, Spondylometaphyseal dysplasia - Sutcliffe type
RS1939635954 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, Pili torti-deafness syndrome
RS1939647579 BCS1L Health Risk Likely pathogenic Pili torti-deafness syndrome, GRACILE syndrome
RS1939677064 BCS1L Health Risk Pathogenic/Likely pathogenic Pili torti-deafness syndrome, BCS1L-related disorder
RS1939770285 COL2A1 Health Risk Conflicting classifications of pathogenicity —
RS1939822204 COL2A1 Health Risk Likely pathogenic —
RS1939822590 COL2A1 Health Risk Pathogenic —
RS1939893821 NCF4 Health Risk Likely pathogenic Granulomatous disease, chronic
RS1939938528 COL2A1 Health Risk Pathogenic —
RS1939938682 ALG13 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 36
RS1939944359 STAG1 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 47
RS1940022093 COL2A1 Health Risk Pathogenic —
RS1940028187 COL2A1 Health Risk Likely pathogenic —
RS1940028721 COL2A1 Health Risk Pathogenic —
RS1940039533 COL2A1 Health Risk Likely pathogenic —
RS1940156255 COL2A1 Health Risk Conflicting classifications of pathogenicity MASS syndrome, MASS syndrome
RS1940156340 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1940158080 COL2A1 Health Risk Pathogenic —
RS1940161368 COL2A1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1940176752 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS1940184559 NCF4 Health Risk Pathogenic Granulomatous disease, chronic
RS1940239843 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1940240492 NPHP3 Health Risk Pathogenic Nephronophthisis 3, Nephronophthisis 3
RS1940246962 ARF3 Health Risk Likely pathogenic Intellectual disability, Atrophy/Degeneration affecting the central nervous system
RS1940361841 SPTBN2 Health Risk Likely pathogenic —
RS1940368506 COL2A1 Health Risk Pathogenic —
RS1940376224 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS1940460729 CFAP47 Health Risk Pathogenic Spermatogenic failure, X-linked
RS1940461548 OCA2 Health Risk Pathogenic —
RS1940534444 SOX5 Health Risk Likely pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS1940642048 HGD Health Risk Pathogenic Alkaptonuria, Alkaptonuria
RS1940645842 HGD Health Risk Likely pathogenic Alkaptonuria, Alkaptonuria
RS1940696088 BEST1 Health Risk Likely pathogenic —
RS1940729491 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940730516 WNT10B Health Risk Pathogenic —
RS1940731395 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940731944 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940739463 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940739692 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1940750523 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940751311 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940751760 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940755126 SPTBN2 Health Risk Conflicting classifications of pathogenicity Autosomal recessive spinocerebellar ataxia 14, Autosomal recessive spinocerebellar ataxia 14
RS1940756257 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940757414 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940766819 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940766958 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940767034 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940772032 SPTBN2 Health Risk Likely pathogenic Spinocerebellar ataxia type 5, Spinocerebellar ataxia type 5
RS1940780382 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940780439 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940782251 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940782891 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940782986 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940783683 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940784067 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940785759 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940804402 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940804461 ACVRL1 Health Risk Conflicting classifications of pathogenicity Telangiectasia, hereditary hemorrhagic
RS1940804969 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940805354 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
RS1940807179 ACVRL1 Health Risk Pathogenic/Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940807412 ACVRL1 Health Risk Likely pathogenic Telangiectasia, hereditary hemorrhagic
RS1940808154 ACVRL1 Health Risk Pathogenic Telangiectasia, hereditary hemorrhagic
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