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
RS587782232 PALB2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587782233 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS587782234 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782236 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782237 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS587782239 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782240 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782241 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782242 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782243 SDHB Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Pheochromocytoma/paraganglioma syndrome 4
RS587782244 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782245 CHEK2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782248 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782249 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782251 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587782254 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782256 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782258 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS587782259 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS587782261 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS587782262 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587782263 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587782265 MLH1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS587782272 TP53 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS587782273 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782274 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782276 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782277 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Breast and/or ovarian cancer
RS587782278 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782280 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782281 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782283 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782286 RAD51C Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587782288 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782289 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS587782290 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS587782292 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782293 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587782296 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587782300 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782301 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS587782302 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS587782303 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587782304 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS587782305 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587782309 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782310 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782313 BRCA2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587782315 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782316 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS587782317 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS587782320 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782323 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782324 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Endometrial carcinoma
RS587782325 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782326 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782329 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS587782330 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS587782332 RAD51C Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group O
RS587782333 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782334 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS587782335 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782336 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782337 PALB2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587782339 RAD50 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Nijmegen breakage syndrome-like disorder
RS587782340 BRCA1 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS587782341 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS587782342 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782343 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS587782344 NBN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587782345 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS587782346 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782347 CHEK2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782348 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS587782349 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS587782350 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Cowden syndrome 1
RS587782351 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 2
RS587782352 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782354 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782355 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782358 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782360 PTEN Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS587782361 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587782362 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782364 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS587782365 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782370 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS587782372 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS587782374 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782375 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587782378 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587782379 STK11 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Peutz-Jeghers syndrome
RS587782386 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS587782387 PALB2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS587782388 BMPR1A Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS587782390 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS587782392 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS587782396 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Carcinoma of colon
RS587782397 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS587782399 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
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