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
RS1064793463 CHD7 Health Risk Pathogenic —
RS1064793464 TSC2 Health Risk Pathogenic —
RS1064793465 EXT1 Health Risk Pathogenic —
RS1064793467 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793468 BRCA1 Health Risk Pathogenic —
RS1064793469 MLH1 Health Risk Pathogenic —
RS1064793471 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793474 PTCH1 Health Risk Pathogenic —
RS1064793475 NR0B1 Health Risk Pathogenic —
RS1064793477 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS1064793478 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793479 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS1064793480 AR Health Risk Conflicting classifications of pathogenicity Androgen resistance syndrome, Kennedy disease
RS1064793481 FOXG1 Health Risk Pathogenic —
RS1064793482 ARID1B Health Risk Pathogenic/Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS1064793483 MED13L Health Risk Pathogenic —
RS1064793489 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1064793490 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Polyposis syndrome
RS1064793491 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793493 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS1064793494 TSC1 Health Risk Likely pathogenic Tuberous sclerosis 1, Isolated focal cortical dysplasia type II
RS1064793495 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793499 COL7A1 Health Risk Pathogenic —
RS1064793503 FBN1 Health Risk Pathogenic —
RS1064793505 GJC2 Health Risk Likely pathogenic Hypomyelinating leukodystrophy 2, Hypomyelinating leukodystrophy 2
RS1064793506 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS1064793509 CTNNB1 Health Risk Pathogenic —
RS1064793510 FBN1 Health Risk Pathogenic —
RS1064793513 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064793514 SHANK3 Health Risk Pathogenic —
RS1064793515 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS1064793516 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793518 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS1064793519 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793523 KCNH2 Health Risk Likely pathogenic —
RS1064793524 TSC2 Health Risk Pathogenic —
RS1064793526 PHEX Health Risk Pathogenic —
RS1064793527 COL1A2 Health Risk Conflicting classifications of pathogenicity Osteogenesis imperfecta type I, Ehlers-Danlos syndrome
RS1064793530 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS1064793533 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793535 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
RS1064793536 MYBPC3 Health Risk Pathogenic —
RS1064793537 CDKN2A Health Risk Conflicting classifications of pathogenicity —
RS1064793538 ABCC6 Health Risk Pathogenic ABCC6-related disorder, Pseudoxanthoma elasticum
RS1064793539 ANKRD11 Health Risk Pathogenic KBG syndrome, Intellectual disability
RS1064793541 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793546 DYRK1A Health Risk Pathogenic DYRK1A-related intellectual disability syndrome, Intellectual disability
RS1064793548 DSP Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 8, Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
RS1064793551 GABRB2 Health Risk Pathogenic —
RS1064793552 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793556 SOX9 Health Risk Pathogenic —
RS1064793559 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS1064793560 TTN Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1064793561 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS1064793563 PEX5 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder 2B, Peroxisome biogenesis disorder 2B
RS1064793564 IKBKG Health Risk Pathogenic —
RS1064793566 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS1064793567 SDHA Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Mitochondrial complex II deficiency
RS1064793569 IQSEC2 Health Risk Pathogenic —
RS1064793571 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793572 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793573 TSC2 Health Risk Pathogenic —
RS1064793575 SLC9A6 Health Risk Pathogenic/Likely pathogenic 6 conditions, Christianson syndrome
RS1064793576 MECP2 Health Risk Pathogenic Rett syndrome, Severe neonatal-onset encephalopathy with microcephaly
RS1064793577 BRCA1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS1064793578 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS1064793583 ALS2 Health Risk Pathogenic/Likely pathogenic Infantile-onset ascending hereditary spastic paralysis, Infantile-onset ascending hereditary spastic paralysis
RS1064793589 CDKN2A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS1064793591 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793593 PNPT1 Health Risk Pathogenic —
RS1064793595 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Familial cancer of breast
RS1064793596 BRCA1 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1064793597 RPS6KA3 Health Risk Pathogenic —
RS1064793598 SMC3 Health Risk Pathogenic —
RS1064793599 ANKRD11 Health Risk Pathogenic —
RS1064793600 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS1064793602 BRCA1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1064793603 TP53 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome
RS1064793606 BARD1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793607 MLH1 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Colorectal cancer
RS1064793610 MLH1 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS1064793612 ACADS Health Risk Pathogenic —
RS1064793613 MEN1 Health Risk Pathogenic Multiple endocrine neoplasia, type 1
RS1064793614 VPS33B Health Risk Pathogenic —
RS1064793616 NSD1 Health Risk Pathogenic —
RS1064793618 CC2D2A Health Risk Pathogenic —
RS1064793620 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS1064793622 TTN Health Risk Pathogenic —
RS1064793624 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1064793625 FANCC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group C
RS1064793626 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1064793627 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1064793628 PALB2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS1064793629 HEPACAM Health Risk Pathogenic —
RS1064793631 HUWE1 Health Risk Pathogenic/Likely pathogenic Intellectual disability, X-linked syndromic
RS1064793632 LAMA1 Health Risk Pathogenic/Likely pathogenic Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome, Ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome
RS1064793633 FBN1 Health Risk Pathogenic —
RS1064793634 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1064793635 MYT1L Health Risk Pathogenic —
RS1064793636 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
« Prev 1 ... 104 105 106 107 108 109 110 ... 4509 Next »

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

Get Started Free →