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
RS2085987831 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2085999500 COL4A1 Health Risk Conflicting classifications of pathogenicity Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, Retinal arterial tortuosity
RS2086001179 PCDH15 Health Risk Pathogenic —
RS2086003529 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086004268 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2086020099 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2086024759 SMARCA4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2086051201 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2086051828 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2086074876 VPS26C Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2086110956 MBTPS1 Health Risk Likely pathogenic Spondyloepiphyseal dysplasia, kondo-fu type
RS2086116982 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Gastric cancer
RS2086117562 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086120321 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086122414 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086123262 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086125359 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2086137107 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086169784 HSPD1 Health Risk Likely pathogenic —
RS2086182638 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2086193164 FAM20A Health Risk Pathogenic —
RS2086193735 HSPD1 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 4, Hypomyelinating leukodystrophy 4
RS2086196870 MADD Health Risk Pathogenic MADD-related disorder, MADD-related disorder
RS2086204386 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2086219990 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2086231222 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2086233936 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086242608 PCNT Health Risk Pathogenic —
RS2086249404 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2086254952 FAM20A Health Risk Likely pathogenic Amelogenesis imperfecta type 1G, Amelogenesis imperfecta type 1G
RS2086255627 PRMT7 Health Risk Pathogenic Short stature-brachydactyly-obesity-global developmental delay syndrome, Short stature-brachydactyly-obesity-global developmental delay syndrome
RS2086256572 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, COL17A1-related disorder
RS2086265807 COL17A1 Health Risk Pathogenic Amelogenesis imperfecta, Amelogenesis imperfecta
RS2086266709 COL17A1 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2086270467 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS2086285148 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086289400 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086293039 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2086299809 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086303574 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2086303843 GNAS Health Risk Likely pathogenic Intellectual disability, Pseudohypoparathyroidism
RS2086308364 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2086308918 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086314131 COL17A1 Health Risk Pathogenic —
RS2086331407 COL17A1 Health Risk Likely pathogenic Amelogenesis imperfecta type 1A, Amelogenesis imperfecta type 1A
RS2086341997 COL17A1 Health Risk Likely pathogenic —
RS2086354048 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2086356460 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2086356894 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2086359795 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2086393945 DEPDC5 Health Risk Likely pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2086398901 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2086401437 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086401774 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086410142 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2086411154 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086422796 ATM Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2086432758 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086453392 COL17A1 Health Risk Conflicting classifications of pathogenicity Junctional epidermolysis bullosa, non-Herlitz type
RS2086458638 PCNT Health Risk Likely pathogenic Microcephalic osteodysplastic primordial dwarfism type II, Microcephalic osteodysplastic primordial dwarfism type II
RS2086461800 MTFMT Health Risk Pathogenic —
RS2086462942 COL17A1 Health Risk Likely pathogenic —
RS2086478717 DONSON Health Risk Pathogenic —
RS2086510950 COL17A1 Health Risk Pathogenic —
RS2086518173 COL17A1 Health Risk Pathogenic —
RS2086519334 DONSON Health Risk Likely pathogenic —
RS2086520075 COL17A1 Health Risk Pathogenic Junctional epidermolysis bullosa, Junctional epidermolysis bullosa
RS2086534839 SMARCA4 Health Risk Conflicting classifications of pathogenicity Rhabdoid tumor predisposition syndrome 2, Intellectual disability
RS2086534991 SMARCA4 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 16
RS2086551043 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086553104 DLG3 Health Risk Likely pathogenic —
RS2086557212 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2086573243 DYSF Health Risk Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS2086575319 SLC6A9 Health Risk Pathogenic Atypical glycine encephalopathy, Atypical glycine encephalopathy
RS2086580997 MYO18B Health Risk Pathogenic —
RS2086610889 SYNE1 Health Risk Likely pathogenic Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS2086635662 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS2086635842 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS2086662769 DLG3;DLG3-AS1 Health Risk Pathogenic —
RS2086666403 MYO18B Health Risk Pathogenic —
RS2086671320 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086672570 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086674096 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2086675006 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2086676230 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Gastric cancer
RS2086678681 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086680808 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086682689 ATM Health Risk Pathogenic Colorectal cancer, Hereditary cancer-predisposing syndrome
RS2086686955 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2086687086 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2086687425 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2086687862 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2086687936 NPC2 Health Risk Likely pathogenic Niemann-Pick disease, type C2
RS2086688013 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 2, Hereditary cancer-predisposing syndrome
RS2086688080 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2086688174 FANCD2 Health Risk Likely pathogenic Fanconi anemia complementation group D2, Fanconi anemia complementation group D2
RS2086689358 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2086689501 NPC2 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type C2
RS2086690343 ATM;C11orf65 Health Risk Pathogenic —
RS2086697982 MYO18B Health Risk Likely pathogenic MYO18B-related disorder, MYO18B-related disorder
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