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
RS72552733 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552734 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Renal carnitine transport defect
RS72552735 SLC22A5 Health Risk Pathogenic/Likely pathogenic Renal carnitine transport defect, Renal carnitine transport defect
RS72552743 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS72552754 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS72552755 CYP21A2 Health Risk Pathogenic CYP21A2-related disorder, CYP21A2-related disorder
RS72552757 CYP21A2 Health Risk Pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS72552758 CYP21A2 Health Risk Pathogenic/Likely pathogenic ADRENAL HYPERPLASIA, CONGENITAL
RS72552771 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72552772 POR Health Risk Pathogenic Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
RS72552775 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS72552778 ABCB4 Health Risk Pathogenic/Likely pathogenic Low phospholipid associated cholelithiasis, Cholestasis
RS72552780 ABCB4 Health Risk Pathogenic Cholestasis, intrahepatic
RS72553875 TNFRSF13B Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS72553876 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS72553877 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS72553878 TNFRSF13B Health Risk Pathogenic Immunodeficiency, common variable
RS72553879 TNFRSF13B Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS72553882 TNFRSF13B Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS72553883 TNFRSF13B Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS72553885 TNFRSF13B Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS72554028 NKX2-5 Health Risk Pathogenic Atrial septal defect 7, Atrial septal defect 7
RS72554056 CASQ2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 2, Cardiovascular phenotype
RS72554069 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Catecholaminergic polymorphic ventricular tachycardia 1
RS72554070 CASQ2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Catecholaminergic polymorphic ventricular tachycardia 1
RS72554078 KCNJ11 Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young, KCNJ11-related disorder
RS72554303 OTC Health Risk Pathogenic —
RS72554304 OTC Health Risk Pathogenic —
RS72554305 OTC Health Risk Pathogenic —
RS72554306 OTC Health Risk Pathogenic —
RS72554307 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554308 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554309 OTC Health Risk Pathogenic —
RS72554310 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554311 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554312 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554313 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554314 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554315 OTC Health Risk Pathogenic —
RS72554317 OTC Health Risk Pathogenic —
RS72554318 OTC Health Risk Likely pathogenic —
RS72554319 OTC Health Risk Pathogenic —
RS72554320 OTC Health Risk Likely pathogenic —
RS72554321 OTC Health Risk Pathogenic —
RS72554322 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554323 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Inborn genetic diseases
RS72554325 OTC Health Risk Pathogenic —
RS72554326 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554327 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554329 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554330 OTC Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS72554331 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554332 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554333 OTC Health Risk Pathogenic —
RS72554334 OTC Health Risk Pathogenic —
RS72554335 OTC Health Risk Pathogenic —
RS72554336 OTC Health Risk Pathogenic —
RS72554337 OTC Health Risk Pathogenic —
RS72554338 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554339 OTC Health Risk Pathogenic —
RS72554340 OTC Health Risk Pathogenic —
RS72554341 OTC Health Risk Pathogenic —
RS72554342 OTC Health Risk Pathogenic —
RS72554343 OTC Health Risk Pathogenic —
RS72554344 OTC Health Risk Pathogenic —
RS72554345 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554346 OTC Health Risk Pathogenic —
RS72554347 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554349 OTC Health Risk Pathogenic —
RS72554350 OTC Health Risk Pathogenic —
RS72554351 OTC Health Risk Pathogenic —
RS72554352 OTC Health Risk Pathogenic —
RS72554353 OTC Health Risk Pathogenic —
RS72554354 OTC Health Risk Pathogenic —
RS72554355 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS72554357 OTC Health Risk Pathogenic —
RS72554359 OTC Health Risk Pathogenic Nonpapillary renal cell carcinoma, Nonpapillary renal cell carcinoma
RS72554620 CYP7B1 Health Risk Likely pathogenic Hereditary spastic paraplegia 5A, Congenital bile acid synthesis defect 3
RS72554626 CYP11B2 Health Risk Likely pathogenic Corticosterone methyloxidase type 2 deficiency, CYP11B2-related disorder
RS72554627 CYP11B2 Health Risk Pathogenic Corticosterone 18-monooxygenase deficiency, Corticosterone 18-monooxygenase deficiency
RS72554632 MAOA Health Risk Pathogenic Brunner syndrome, Brunner syndrome
RS72554634 ABCB7 Health Risk Pathogenic X-linked sideroblastic anemia with ataxia, X-linked sideroblastic anemia with ataxia
RS72554635 ATP7A Health Risk Pathogenic X-linked distal spinal muscular atrophy type 3, Menkes kinky-hair syndrome
RS72554636 ATP7A Health Risk Conflicting classifications of pathogenicity Menkes kinky-hair syndrome, Cutis laxa
RS72554638 ATP7A Health Risk Conflicting classifications of pathogenicity Cutis laxa, X-linked
RS72554639 ATP7A Health Risk Likely pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS72554640 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS72554644 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS72554645 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS72554649 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, X-linked distal spinal muscular atrophy type 3
RS72554650 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Cutis laxa
RS72554652 ATP7A Health Risk Pathogenic Menkes kinky-hair syndrome, Menkes kinky-hair syndrome
RS72554658 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS72554659 SERPINA7 Health Risk association Thyroxine-binding globulin deficiency, partial
RS72554664 G6PD Health Risk Pathogenic G6PD KAIPING, G6PD DHON
RS72554665 G6PD Health Risk Likely pathogenic G6PD CANTON, G6PD GIFU
RS72555358 GLB1 Health Risk Conflicting classifications of pathogenicity Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS72555359 GLB1 Health Risk Pathogenic Infantile GM1 gangliosidosis, Mucopolysaccharidosis
RS72555360 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis type 2, GM1 gangliosidosis type 3
RS72555361 GLB1 Health Risk Pathogenic/Likely pathogenic Infantile GM1 gangliosidosis, GM1 gangliosidosis type 3
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