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
RS2149039190 EXOSC9 Health Risk Pathogenic —
RS2149039608 YY1AP1 Health Risk Likely pathogenic Grange syndrome, Grange syndrome
RS2149041171 ITGA6 Health Risk Pathogenic Epidermolysis bullosa, junctional 6
RS2149046665 STIL Health Risk Likely pathogenic Microcephaly 7, primary
RS2149047535 ITGA6 Health Risk Pathogenic Epidermolysis bullosa, junctional 6
RS2149047683 ITGA6 Health Risk Pathogenic Junctional epidermolysis bullosa with pyloric atresia, Junctional epidermolysis bullosa with pyloric atresia
RS2149048173 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2149054103 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2149054421 BBS7 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS2149060093 SLC39A8 Health Risk Pathogenic SLC39A8-CDG, SLC39A8-CDG
RS2149063864 SYT2 Health Risk Pathogenic Myasthenic syndrome, congenital
RS2149063996 SYT2 Health Risk Pathogenic Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
RS2149064005 SYT2 Health Risk Pathogenic Congenital myasthenic syndrome 7, Congenital myasthenic syndrome 7
RS2149065229 HUWE1 Health Risk Pathogenic Intellectual disability, X-linked syndromic
RS2149066197 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2149066862 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2149066990 SYT2 Health Risk Likely pathogenic —
RS2149067131 SYT2 Health Risk Pathogenic Myasthenic syndrome, congenital
RS2149067379 ITGA6 Health Risk Pathogenic —
RS2149068027 PROM1 Health Risk Pathogenic PROM1-related disorder, PROM1-related disorder
RS2149068325 PROM1 Health Risk Pathogenic —
RS2149068434 SYT2 Health Risk Pathogenic Myasthenic syndrome, congenital
RS2149068932 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 7
RS2149069543 SYT2 Health Risk Pathogenic Myasthenic syndrome, congenital
RS2149069969 RYR2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia
RS2149071722 MYT1L Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 39
RS2149071963 MYT1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 39
RS2149073895 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS2149075096 DMD Health Risk Pathogenic Progressive muscular dystrophy, Progressive muscular dystrophy
RS2149075577 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149075615 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS2149077237 BLTP1 Health Risk Likely pathogenic —
RS2149078144 ITGA6 Health Risk Pathogenic Epidermolysis bullosa, junctional 6
RS2149078329 PROM1 Health Risk Likely pathogenic —
RS2149078493 MECOM Health Risk Pathogenic —
RS2149078995 PROM1 Health Risk Pathogenic Retinal macular dystrophy type 2, Retinal macular dystrophy type 2
RS2149080351 PROM1 Health Risk Likely pathogenic Retinitis pigmentosa 41, Retinitis pigmentosa 41
RS2149080704 CFH Health Risk Pathogenic —
RS2149081651 HPDL Health Risk Pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS2149081821 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2149081832 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2149081995 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2149082066 CFH Health Risk Pathogenic —
RS2149082076 CFH Health Risk Likely pathogenic/Likely pathogenic, low penetrance Basal laminar drusen, Factor H deficiency
RS2149082096 HPDL Health Risk Likely pathogenic Spastic paraplegia, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS2149082294 HPDL Health Risk Pathogenic Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities, Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities
RS2149082406 HPDL Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2149082525 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2149082684 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS2149082699 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3
RS2149083118 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS2149083474 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2149084783 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS2149084861 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, BBS7-related disorder
RS2149086804 WDFY3 Health Risk Likely pathogenic —
RS2149087335 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149087436 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149087688 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149088310 CFH Health Risk Likely pathogenic —
RS2149088707 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149088724 CFH Health Risk Pathogenic Basal laminar drusen, Atypical hemolytic-uremic syndrome
RS2149088788 CFH Health Risk Pathogenic —
RS2149088820 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149089530 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149089955 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149090006 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149090030 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149090096 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149090269 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3
RS2149094471 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149094788 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149094851 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149094935 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS2149094952 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS2149095258 ATP7A Health Risk Conflicting classifications of pathogenicity X-linked distal spinal muscular atrophy type 3, Cutis laxa
RS2149095319 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149095456 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2149095626 DMD Health Risk Pathogenic Becker muscular dystrophy, Becker muscular dystrophy
RS2149095964 ATP7A Health Risk Likely pathogenic X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3
RS2149095968 ATP7A Health Risk Pathogenic Cutis laxa, X-linked
RS2149096532 MED12L Health Risk Pathogenic/Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS2149096859 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS2149097380 ATP7A Health Risk Likely pathogenic Cutis laxa, X-linked
RS2149100212 ATP7A Health Risk Likely pathogenic X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3
RS2149102589 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149102678 MUTYH Health Risk Likely pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149102703 MUTYH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS2149103038 MUTYH Health Risk Pathogenic Familial adenomatous polyposis 2, Familial adenomatous polyposis 2
RS2149103521 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS2149103640 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS2149103688 CFH Health Risk Pathogenic/Likely pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2149104388 WDFY3 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2149104823 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS2149107265 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS2149107994 CFH Health Risk Pathogenic —
RS2149108011 CFH Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2149108488 CFH Health Risk Pathogenic —
RS2149109587 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS2149110239 MYT1L Health Risk Likely pathogenic —
RS2149110457 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, X-linked distal spinal muscular atrophy type 3
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