SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS864622122 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622124 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622126 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622128 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS864622129 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622132 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622134 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622138 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Breast-ovarian cancer
RS864622142 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS864622143 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS864622145 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622149 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622153 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622154 MRE11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS864622161 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS864622162 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS864622163 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS864622164 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622166 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS864622169 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622171 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS864622172 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622174 KCNH2 Health Risk Likely pathogenic Long QT syndrome, Long QT syndrome 2
RS864622179 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia
RS864622180 PMP22 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS864622182 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622183 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622185 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622187 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS864622188 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS864622192 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622193 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622194 PLP1 Health Risk Pathogenic Hereditary spastic paraplegia 2, Inborn genetic diseases
RS864622195 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS864622197 MYBPC3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS864622198 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS864622200 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622204 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS864622210 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622212 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS864622215 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS864622218 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS864622219 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS864622220 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622223 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622224 MYBPC3 Health Risk Pathogenic Hypertrophic cardiomyopathy, Cardiomyopathy
RS864622228 APC Health Risk Pathogenic Desmoid disease, hereditary
RS864622233 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622236 BRIP1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622237 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS864622239 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622244 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622249 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622250 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS864622251 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622252 SMAD4 Health Risk Likely pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Juvenile polyposis syndrome
RS864622253 NBN Health Risk Pathogenic/Likely pathogenic Microcephaly, normal intelligence and immunodeficiency
RS864622257 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS864622258 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622261 MSH2 Health Risk Pathogenic Lynch syndrome, Lynch syndrome
RS864622263 CDKN2A Health Risk Pathogenic/Likely pathogenic Familial melanoma, Hereditary cancer-predisposing syndrome
RS864622266 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622267 VHL Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Chuvash polycythemia
RS864622268 SPAST Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 4, Hereditary spastic paraplegia 4
RS864622269 ATL1 Health Risk Pathogenic/Likely pathogenic Hereditary spastic paraplegia 3A, Inborn genetic diseases
RS864622272 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622273 EGR2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, type I
RS864622277 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS864622278 RAD51C Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group O, Hereditary cancer-predisposing syndrome
RS864622280 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS864622281 MSH6 Health Risk Conflicting classifications of pathogenicity Lynch syndrome 5, Hereditary cancer-predisposing syndrome
RS864622283 BARD1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Ovarian cancer
RS864622289 SMAD4 Health Risk Conflicting classifications of pathogenicity Generalized juvenile polyposis/juvenile polyposis coli, Hereditary cancer-predisposing syndrome
RS864622290 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622291 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622292 KCNJ2 Health Risk Likely pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS864622293 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS864622294 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622295 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS864622300 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622301 PALB2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS864622303 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS864622309 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS864622314 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS864622317 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS864622318 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622324 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622326 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS864622330 NF1 Health Risk Conflicting classifications of pathogenicity Neurofibromatosis, type 1
RS864622333 NBN Health Risk Pathogenic Microcephaly, normal intelligence and immunodeficiency
RS864622334 VHL Health Risk Conflicting classifications of pathogenicity Von Hippel-Lindau syndrome, Hereditary cancer-predisposing syndrome
RS864622336 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS864622340 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS864622341 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS864622343 RAD51C Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS864622347 BLM Health Risk Pathogenic/Likely pathogenic Bloom syndrome, Hereditary cancer-predisposing syndrome
RS864622350 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622352 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS864622354 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS864622357 DYNC2H1 Health Risk Conflicting classifications of pathogenicity Jeune thoracic dystrophy, Asphyxiating thoracic dystrophy 3
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