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
RS2040672480 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2040679706 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS2040679845 MORC2 Health Risk Likely pathogenic Developmental delay, impaired growth
RS2040680054 MORC2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental delay
RS2040682065 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040683256 IFT140 Health Risk Likely pathogenic Retinitis pigmentosa 80, Retinitis pigmentosa 80
RS2040685752 IFT140 Health Risk Likely pathogenic Saldino-Mainzer syndrome, Retinitis pigmentosa 80
RS2040686112 SLX4 Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia
RS2040709857 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS2040710629 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2040711393 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2040714340 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2040714896 DMD Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2040714903 TRIP12 Health Risk Likely pathogenic Clark-Baraitser syndrome, Clark-Baraitser syndrome
RS2040719776 SLX4 Health Risk Pathogenic Fanconi anemia complementation group P, Fanconi anemia complementation group P
RS2040719850 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group P, Fanconi anemia
RS2040730164 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040735453 SPECC1L Health Risk Pathogenic Teebi hypertelorism syndrome 1, Teebi hypertelorism syndrome 1
RS2040736026 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040737476 SPECC1L Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2040737996 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040774076 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040782954 TGM1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040788600 SLX4 Health Risk Pathogenic/Likely pathogenic Fanconi anemia, Fanconi anemia
RS2040791482 TGM1 Health Risk Pathogenic —
RS2040794617 TGM1 Health Risk Likely pathogenic —
RS2040795178 TGM1 Health Risk Likely pathogenic —
RS2040811962 TGM1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040815760 TGM1 Health Risk Likely pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040816609 TBK1 Health Risk Pathogenic/Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2040817364 MORC2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease axonal type 2Z, Developmental delay
RS2040818118 TGM1 Health Risk Pathogenic Autosomal recessive congenital ichthyosis 1, Autosomal recessive congenital ichthyosis 1
RS2040821014 DMD Health Risk Pathogenic Dilated cardiomyopathy 3B, Duchenne muscular dystrophy
RS2040821117 TGM1 Health Risk Pathogenic —
RS2040843894 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040844773 FANCA Health Risk Conflicting classifications of pathogenicity FANCA-related disorder, Fanconi anemia
RS2040845588 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040846500 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040847223 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2040847430 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040852683 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2040853392 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2040853528 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2040855193 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040857188 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2040857662 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040859131 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040861554 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2040862241 SNF8 Health Risk Pathogenic SNF8-associated disease, Developmental and epileptic encephalopathy 115
RS2040866242 SYNJ1 Health Risk Likely pathogenic Early-onset Parkinson disease 20, Early-onset Parkinson disease 20
RS2040867555 PIEZO2 Health Risk Likely pathogenic Congenital ichthyosiform erythroderma, Exocrine pancreatic insufficiency
RS2040876556 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Joubert syndrome 23
RS2040913777 SYNJ1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 53
RS2040931363 HSD11B2 Health Risk Pathogenic —
RS2040932099 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2040932336 HSD11B2 Health Risk Pathogenic —
RS2040936942 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2040937055 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2040942337 ELAC2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2040973121 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS2040979235 HSD11B2 Health Risk Pathogenic Apparent mineralocorticoid excess, Apparent mineralocorticoid excess
RS2040982837 ARMC9 Health Risk Likely pathogenic —
RS2040987609 TRIM37 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2040998358 MYH11 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 4
RS2041000390 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2041000812 SLC12A1 Health Risk Pathogenic —
RS2041013413 SNF8 Health Risk Pathogenic SNF8-associated disease, Developmental and epileptic encephalopathy 115
RS2041024132 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041025786 CEP164 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2041026343 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2041026878 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2041037870 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS2041038603 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2041040360 DMD Health Risk Likely pathogenic Dilated cardiomyopathy 3B, Dilated cardiomyopathy 3B
RS2041065544 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041065623 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2041065794 FAH Health Risk Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041065908 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041066220 FAH Health Risk Likely pathogenic —
RS2041085400 ELAC2 Health Risk Pathogenic Combined oxidative phosphorylation defect type 17, Combined oxidative phosphorylation defect type 17
RS2041086288 MYH11 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 4
RS2041090208 HOGA1 Health Risk Likely pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2041090817 MYH11 Health Risk Pathogenic Aortic aneurysm, familial thoracic 4
RS2041094594 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2041095238 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2041095858 PYCR1 Health Risk Likely pathogenic Wiedemann-Rautenstrauch-like progeroid syndrome, Wiedemann-Rautenstrauch-like progeroid syndrome
RS2041095962 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041096125 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2041098068 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2041098364 PYCR1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive cutis laxa type 2B, Autosomal recessive cutis laxa type 2B
RS2041099865 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2041101017 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2041101553 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2041101804 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2041102320 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2041104962 HOGA1 Health Risk Pathogenic —
RS2041105506 HOGA1 Health Risk Pathogenic Primary hyperoxaluria type 3, Primary hyperoxaluria type 3
RS2041114940 FAH Health Risk Pathogenic/Likely pathogenic Tyrosinemia type I, Tyrosinemia type I
RS2041122746 VPS33B Health Risk Pathogenic Arthrogryposis, renal dysfunction
RS2041131954 FAH Health Risk Pathogenic Tyrosinemia type I, Tyrosinemia type I
« Prev 1 ... 1531 1532 1533 1534 1535 1536 1537 ... 4509 Next »

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

Get Started Free →