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
RS72558413 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558414 OTC Health Risk Pathogenic —
RS72558415 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558416 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS72558417 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558418 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558420 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558421 OTC Health Risk Pathogenic —
RS72558422 OTC Health Risk Pathogenic —
RS72558423 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558424 OTC Health Risk Pathogenic —
RS72558425 OTC Health Risk Pathogenic —
RS72558426 OTC Health Risk Likely pathogenic —
RS72558427 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558428 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558429 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558430 OTC Health Risk Pathogenic —
RS72558431 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558432 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558433 OTC Health Risk Pathogenic —
RS72558434 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558435 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558436 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558437 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558438 OTC Health Risk Pathogenic —
RS72558439 OTC Health Risk Pathogenic —
RS72558440 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558441 OTC Health Risk Pathogenic —
RS72558442 OTC Health Risk Pathogenic —
RS72558443 OTC Health Risk Likely pathogenic OTC-related disorder, OTC-related disorder
RS72558444 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558446 OTC Health Risk Pathogenic —
RS72558447 OTC Health Risk Pathogenic —
RS72558448 OTC Health Risk Pathogenic —
RS72558449 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558450 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558451 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558452 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558453 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558454 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558455 OTC Health Risk Pathogenic —
RS72558456 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558457 OTC Health Risk Pathogenic —
RS72558459 OTC Health Risk Pathogenic —
RS72558460 OTC Health Risk Pathogenic —
RS72558461 OTC Health Risk Pathogenic —
RS72558462 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS72558463 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558464 OTC Health Risk Pathogenic —
RS72558465 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558466 OTC Health Risk Pathogenic —
RS72558467 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558469 OTC Health Risk Pathogenic —
RS72558470 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558471 OTC Health Risk Pathogenic —
RS72558472 OTC Health Risk Likely pathogenic —
RS72558473 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS72558474 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558475 OTC Health Risk Likely pathogenic See cases, See cases
RS72558477 OTC Health Risk Pathogenic —
RS72558478 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558479 OTC Health Risk Pathogenic —
RS72558480 OTC Health Risk Pathogenic —
RS72558481 OTC Health Risk Pathogenic —
RS72558482 OTC Health Risk Pathogenic —
RS72558483 OTC Health Risk Pathogenic —
RS72558484 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558485 OTC Health Risk Pathogenic —
RS72558486 OTC Health Risk Pathogenic —
RS72558487 OTC Health Risk Pathogenic —
RS72558488 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558489 OTC Health Risk Pathogenic —
RS72558490 OTC Health Risk Pathogenic —
RS72558491 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558492 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558493 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558494 OTC Health Risk Pathogenic —
RS72558495 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72558496 OTC Health Risk Pathogenic —
RS72559713 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS72559715 ABCC8 Health Risk Pathogenic Type 2 diabetes mellitus, Permanent neonatal diabetes mellitus
RS72559716 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS72559717 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS72559718 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS72559720 ABCC8 Health Risk Pathogenic —
RS72559722 ABCC8 Health Risk Pathogenic/Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS72559723 ABCC8 Health Risk Likely pathogenic Hyperinsulinemic hypoglycemia, familial
RS72559726 ABCC8 Health Risk Conflicting classifications of pathogenicity —
RS72559730 ABCC8 Health Risk Pathogenic Hyperinsulinemic hypoglycemia, familial
RS72559734 ABCC8 Health Risk Pathogenic/Likely pathogenic Familial hyperinsulinism, Permanent neonatal diabetes mellitus
RS72559751 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS72561473 HBB Health Risk Conflicting classifications of pathogenicity beta Thalassemia, beta Thalassemia
RS72561723 GJB2 Health Risk Pathogenic Autosomal dominant keratitis-ichthyosis-hearing loss syndrome, Autosomal recessive nonsyndromic hearing loss 1A
RS72561774 XPC Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group C
RS72619327 SURF1 Health Risk Conflicting classifications of pathogenicity Leigh syndrome, Leigh syndrome
RS72624957 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS72624961 IMPDH1 Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 11, Retinitis pigmentosa
RS72624967 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, IMPDH1-related disorder
RS72624974 IMPDH1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Leber congenital amaurosis 11
RS7262506 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy, Corneal dystrophy-perceptive deafness syndrome
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