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
RS2078781062 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2078781577 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2078806601 PCDH15 Health Risk Pathogenic —
RS2078809726 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2078810640 PCDH15 Health Risk Pathogenic —
RS2078816952 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2078817543 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, ATM-related disorder
RS2078823585 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2078826294 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2078833835 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2078872337 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2078881350 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2078888769 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2078892867 OPHN1 Health Risk Conflicting classifications of pathogenicity X-linked intellectual disability-cerebellar hypoplasia syndrome, Inborn genetic diseases
RS2078893430 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2078907245 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2078907250 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2078916448 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2078948368 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2078949879 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2078951392 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2078951497 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2078971612 BRIP1 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2078973424 BRIP1 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2078974062 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2078991144 FTO Health Risk Likely pathogenic Body mass index quantitative trait locus 14, Body mass index quantitative trait locus 14
RS2079019657 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS2079044065 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2079054125 GPHN Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C, Inborn genetic diseases
RS2079056783 PLXNA1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome
RS2079078019 ANK3 Health Risk Likely pathogenic —
RS2079109807 PLXNA1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Dworschak-Punetha neurodevelopmental syndrome
RS2079131229 FTCD Health Risk Likely pathogenic Glutamate formiminotransferase deficiency, Glutamate formiminotransferase deficiency
RS2079185551 PLXNA1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, PLXNA1-related disorder
RS2079200580 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2079215968 PLXNA1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2079235532 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2079237399 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079239070 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079239543 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079242252 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079244120 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079244988 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079245609 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2079245902 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2079247626 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079249238 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079249834 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2079254006 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2079347087 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6
RS2079350332 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6
RS2079351113 FUS Health Risk Pathogenic Tremor, hereditary essential
RS2079386835 MYO1E Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2079426412 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4F, Charcot-Marie-Tooth disease type 4F
RS2079441396 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2079442813 RNF213 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2079443119 PRX Health Risk Pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS2079443410 RNF213 Health Risk Pathogenic Moyamoya disease 2, Moyamoya disease 2
RS2079443609 RNF213 Health Risk Likely pathogenic Moyamoya angiopathy, Moyamoya angiopathy
RS2079456028 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2079459982 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS2079467367 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2079476019 PCDH15 Health Risk Likely pathogenic —
RS2079476596 DOCK6 Health Risk Pathogenic —
RS2079479378 PCDH15 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2079481708 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Usher syndrome type 1D
RS2079495070 MYO1E Health Risk Pathogenic Focal segmental glomerulosclerosis 6, Focal segmental glomerulosclerosis 6
RS2079499416 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2079511684 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS2079512634 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2079512694 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2079512738 PRX Health Risk Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2079512784 PRX Health Risk Pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease
RS2079516243 NBEA Health Risk Pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2079566319 IFT122 Health Risk Conflicting classifications of pathogenicity Cranioectodermal dysplasia 1, Inborn genetic diseases
RS2079576918 SPTLC2 Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2079586826 ZBTB20 Health Risk Likely pathogenic —
RS2079589483 ZBTB20 Health Risk Pathogenic Primrose syndrome, Primrose syndrome
RS2079597067 DLL3 Health Risk Pathogenic —
RS2079604821 DLL3 Health Risk Pathogenic/Likely pathogenic Spondylocostal dysostosis 1, autosomal recessive
RS2079618652 RLIM Health Risk Likely pathogenic Intellectual disability, X-linked 61
RS2079619560 DLL3 Health Risk Pathogenic —
RS2079620247 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS2079640097 TLK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2079641759 TLK2 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2079646844 DLL3 Health Risk Pathogenic —
RS2079647537 LOC126862611;TLK2 Health Risk Pathogenic —
RS2079653502 DLL3 Health Risk Conflicting classifications of pathogenicity Spondylocostal dysostosis 1, autosomal recessive
RS2079656641 GPX4 Health Risk Likely pathogenic —
RS2079656861 GPX4 Health Risk Pathogenic —
RS2079675267 SPTLC2 Health Risk Conflicting classifications of pathogenicity Neuropathy, hereditary sensory and autonomic
RS2079693628 ANO10 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 10, Autosomal recessive spinocerebellar ataxia 10
RS2079693632 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2079694684 ATM Health Risk Likely pathogenic —
RS2079698337 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2079704928 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2079705608 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2079706212 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2079709372 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2079736561 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
« Prev 1 ... 1597 1598 1599 1600 1601 1602 1603 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →