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
RS2135689111 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, ATM-related cancer predisposition
RS2135690451 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135690630 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135690723 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135691240 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135691302 ATM Health Risk Likely pathogenic Familial cancer of breast, Ataxia-telangiectasia syndrome
RS2135691310 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135698596 MYO7A Health Risk Pathogenic —
RS2135699140 MYO7A Health Risk Pathogenic —
RS2135699333 MYO7A Health Risk Pathogenic —
RS2135702107 COL27A1 Health Risk Likely pathogenic —
RS2135704274 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135704461 ATM Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2135704536 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135705450 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135706408 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135707160 MED17 Health Risk Pathogenic —
RS2135707267 MED17 Health Risk Pathogenic/Likely pathogenic Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly, Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
RS2135707669 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135707883 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135707910 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2135707999 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS2135708324 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135708403 ATM Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2135709622 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135709779 ATM Health Risk Likely pathogenic Breast cancer, susceptibility to
RS2135710049 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135710273 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135711169 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2135711274 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2135712224 MYO7A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 1, Usher syndrome type 1
RS2135713786 MED17 Health Risk Pathogenic —
RS2135713875 MED17 Health Risk Pathogenic —
RS2135714806 MED17 Health Risk Pathogenic —
RS2135714832 MED17 Health Risk Pathogenic —
RS2135715560 MED17 Health Risk Pathogenic —
RS2135717849 MED17 Health Risk Pathogenic —
RS2135721049 MYO7A Health Risk Pathogenic —
RS2135721485 HOGA1 Health Risk Likely pathogenic —
RS2135721573 MED17 Health Risk Likely pathogenic —
RS2135721735 HOGA1 Health Risk Pathogenic —
RS2135722254 HOGA1 Health Risk Likely pathogenic —
RS2135722265 HOGA1 Health Risk Pathogenic —
RS2135722313 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2135722358 MYO7A Health Risk Likely pathogenic —
RS2135722531 HOGA1 Health Risk Pathogenic —
RS2135722575 HOGA1 Health Risk Pathogenic —
RS2135723056 MED17 Health Risk Pathogenic —
RS2135723890 HOGA1 Health Risk Likely pathogenic —
RS2135727106 C1S Health Risk Pathogenic Complement component C1s deficiency, Complement component C1s deficiency
RS2135729861 HOGA1 Health Risk Pathogenic —
RS2135729949 C1S Health Risk Pathogenic —
RS2135732554 MYO7A Health Risk Pathogenic —
RS2135733332 MYO7A Health Risk Likely pathogenic —
RS2135733393 MYO7A Health Risk Pathogenic Ear malformation, Ear malformation
RS2135733425 SMARCC2 Health Risk Pathogenic —
RS2135733500 MYO7A Health Risk Pathogenic —
RS2135733729 SMARCC2 Health Risk Likely pathogenic SMARCC2-related BAFopathy, SMARCC2-related BAFopathy
RS2135734683 SMARCC2 Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 8, Coffin-Siris syndrome 8
RS2135735043 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135735093 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135735834 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135736277 STIM1 Health Risk Pathogenic/Likely pathogenic Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS2135736601 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135736648 STIM1 Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to STIM1 deficiency, Myopathy with tubular aggregates
RS2135736779 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135736874 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135737651 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135738057 POC1B Health Risk Pathogenic Cone-rod dystrophy 20, Cone-rod dystrophy 20
RS2135738163 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2135738753 MYO7A Health Risk Likely pathogenic —
RS2135739220 SHANK2 Health Risk Pathogenic Autism, susceptibility to
RS2135739702 MYO7A Health Risk Pathogenic —
RS2135742927 SUFU Health Risk Likely pathogenic Gorlin syndrome, Medulloblastoma
RS2135743218 SUFU Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135743382 SUFU Health Risk Pathogenic Medulloblastoma, Gorlin syndrome
RS2135748075 MYRF Health Risk Likely pathogenic Disorder of sexual differentiation, Disorder of sexual differentiation
RS2135748375 MYRF Health Risk Pathogenic —
RS2135750262 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135750656 SMARCC2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2135751048 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135751909 SHANK2 Health Risk Pathogenic Autism, susceptibility to
RS2135752319 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2135752682 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135753345 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135753552 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135753954 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2135753984 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135757801 MYO7A Health Risk Likely pathogenic —
RS2135758861 EIF2B1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2135759698 EIF2B1 Health Risk Pathogenic —
RS2135760052 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2135760623 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135761807 EIF2B1 Health Risk Pathogenic —
RS2135762072 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2135762079 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS2135762104 SHANK2 Health Risk Pathogenic —
RS2135762199 MYO7A Health Risk Pathogenic —
RS2135762355 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS2135762420 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
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