SNP Directory

400,964 genetic variants in our database.

Clear
All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS863224252 TYMP Health Risk Conflicting classifications of pathogenicity —
RS863224254 TYMP Health Risk Likely pathogenic —
RS863224255 TYMP Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 1, Mitochondrial DNA depletion syndrome 1
RS863224257 UQCRB Health Risk Likely pathogenic —
RS863224258 UQCRB Health Risk Conflicting classifications of pathogenicity —
RS863224259 UQCRB Health Risk Pathogenic —
RS863224260 UQCRQ Health Risk Conflicting classifications of pathogenicity —
RS863224264 WFS1 Health Risk Pathogenic/Likely pathogenic WFS1-related disorder, Autosomal dominant nonsyndromic hearing loss 6
RS863224265 WFS1 Health Risk Pathogenic Rare genetic deafness, Wolfram syndrome 1
RS863224268 WFS1 Health Risk Pathogenic/Likely pathogenic Wolfram syndrome 1, Cataract 41
RS863224269 WFS1 Health Risk Uncertain significance/Uncertain risk allele Wolfram syndrome 1, WFS1-related disorder
RS863224270 YARS2 Health Risk Likely pathogenic —
RS863224271 YARS2 Health Risk Likely pathogenic —
RS863224272 YARS2 Health Risk Likely pathogenic —
RS863224273 YARS2 Health Risk Likely pathogenic —
RS863224279 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863224281 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS863224285 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863224294 ATM Health Risk Conflicting classifications of pathogenicity Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS863224309 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS863224315 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS863224335 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863224341 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863224347 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS863224348 PTCH1 Health Risk Conflicting classifications of pathogenicity Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS863224352 NF1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Neurofibromatosis
RS863224361 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS863224362 STK11 Health Risk Conflicting classifications of pathogenicity Peutz-Jeghers syndrome, Hereditary cancer-predisposing syndrome
RS863224371 VHL Health Risk Conflicting classifications of pathogenicity Chuvash polycythemia, Von Hippel-Lindau syndrome
RS863224395 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS863224396 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS863224400 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS863224414 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS863224416 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS863224419 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224420 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224439 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS863224440 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS863224441 FANCC Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS863224442 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS863224443 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS863224444 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS863224445 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224446 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224447 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS863224448 STK11 Health Risk Pathogenic/Likely pathogenic Peutz-Jeghers syndrome, Peutz-Jeghers syndrome
RS863224449 MPZ Health Risk Pathogenic Charcot-Marie-Tooth disease, type I
RS863224450 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863224451 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS863224452 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS863224453 EPCAM Health Risk Likely pathogenic —
RS863224454 SH3TC2 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4C
RS863224455 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863224457 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS863224458 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Carcinoma of colon
RS863224459 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS863224460 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS863224461 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS863224462 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS863224463 ATM Health Risk Pathogenic/Likely pathogenic Ataxia-telangiectasia syndrome, Hereditary cancer-predisposing syndrome
RS863224464 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS863224467 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224468 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS863224469 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS863224471 GJB1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth disease X-linked dominant 1
RS863224472 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS863224473 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863224474 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863224475 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863224476 MSH6 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863224478 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS863224480 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863224481 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863224483 MYBPC3 Health Risk Pathogenic/Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy 4
RS863224484 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS863224485 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS863224486 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS863224487 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS863224488 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224489 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224490 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224491 NF1 Health Risk Pathogenic/Likely pathogenic Neurofibromatosis, type 1
RS863224492 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224493 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS863224494 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS863224495 SERPINC1 Health Risk Pathogenic Hereditary antithrombin deficiency, Hereditary antithrombin deficiency
RS863224496 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863224497 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS863224498 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS863224499 TP53 Health Risk Pathogenic/Likely pathogenic Li-Fraumeni syndrome, Li-Fraumeni syndrome 1
RS863224500 TP53 Health Risk Conflicting classifications of pathogenicity Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome
RS863224501 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS863224502 MUTYH Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS863224503 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS863224504 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Respiratory ciliopathies including non-CF bronchiectasis
RS863224506 FANCG Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group G
RS863224507 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS863224508 MRE11 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia-like disorder
RS863224509 RAD50 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224510 BRCA1 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
« Prev 1 ... 3826 3827 3828 3829 3830 3831 3832 ... 4010 Next »

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

Get Started Free →