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
RS2068126785 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068126851 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068130178 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068193669 ATRX Health Risk Likely pathogenic Intellectual disability-hypotonic facies syndrome, X-linked
RS2068213764 RPS6KA3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2068243273 SLC46A1 Health Risk Conflicting classifications of pathogenicity Congenital defect of folate absorption, Congenital defect of folate absorption
RS2068301622 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068301848 OTC Health Risk Likely pathogenic —
RS2068302240 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068302365 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068302412 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068314699 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068315546 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068315570 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068329229 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068330297 COL4A5 Health Risk Likely pathogenic —
RS2068330799 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2068331233 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2068332131 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068333361 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2068375565 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068379887 SDCCAG8 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2068409652 COL4A5 Health Risk Likely pathogenic —
RS2068413590 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068436110 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068437273 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068449960 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2068485732 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068486155 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068486828 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068487136 OTC Health Risk Conflicting classifications of pathogenicity Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068501144 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068501410 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068501518 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068501940 OTC Health Risk Pathogenic/Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068502349 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068502421 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068502738 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068529327 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068529566 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068529696 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068530106 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068530290 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068530385 OTC Health Risk Likely pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068537554 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068539626 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2068539903 COL4A5 Health Risk Likely pathogenic Alport syndrome, Alport syndrome
RS2068545306 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068545602 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068567564 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068570435 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2068571470 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2068574381 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2068585706 CHRNA4 Health Risk Conflicting classifications of pathogenicity Autosomal dominant nocturnal frontal lobe epilepsy, Autosomal dominant nocturnal frontal lobe epilepsy
RS2068592611 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068592875 OTC Health Risk Pathogenic Ornithine carbamoyltransferase deficiency, Ornithine carbamoyltransferase deficiency
RS2068604683 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2068606445 TAFAZZIN Health Risk Likely pathogenic 3-Methylglutaconic aciduria type 2, 3-Methylglutaconic aciduria type 2
RS2068606932 TAFAZZIN Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, 3-Methylglutaconic aciduria type 2
RS2068634140 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2068635192 GATA2 Health Risk Conflicting classifications of pathogenicity Monocytopenia with susceptibility to infections, Deafness-lymphedema-leukemia syndrome
RS2068635493 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2068635607 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2068649745 PAFAH1B1 Health Risk Likely pathogenic Lissencephaly, Lissencephaly
RS2068650679 RPS6KA3 Health Risk Pathogenic/Likely pathogenic Coffin-Lowry syndrome, Coffin-Lowry syndrome
RS2068656783 PRKCG Health Risk Likely pathogenic Spinocerebellar ataxia type 14, Spinocerebellar ataxia type 14
RS2068659442 PRKCG Health Risk Likely pathogenic —
RS2068659829 COL4A5 Health Risk Pathogenic —
RS2068660300 COL4A5 Health Risk Likely pathogenic —
RS2068661291 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2068661887 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2068663163 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2068678455 MAPK1 Health Risk Likely pathogenic 6 conditions, 6 conditions
RS2068680774 ATP6AP1 Health Risk Pathogenic Immunodeficiency 47, Immunodeficiency 47
RS2068685370 GATA2 Health Risk Pathogenic Deafness-lymphedema-leukemia syndrome, GATA2 deficiency with susceptibility to MDS/AML
RS2068696629 GATA2 Health Risk Conflicting classifications of pathogenicity Deafness-lymphedema-leukemia syndrome, Monocytopenia with susceptibility to infections
RS2068703521 MT-TS1 Health Risk Likely pathogenic neonatal lactic acidosis, Mitochondrial complex IV deficiency
RS2068705545 ATP6AP1 Health Risk Pathogenic Immunodeficiency 47, Immunodeficiency 47
RS2068716907 MAPK1 Health Risk Pathogenic Noonan syndrome 13, Heart
RS2068716940 MAPK1 Health Risk Pathogenic/Likely pathogenic Heart, malformation of
RS2068717187 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068717619 COL4A5 Health Risk Pathogenic Alport syndrome, Alport syndrome
RS2068718016 COL4A5 Health Risk Pathogenic/Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2068730966 PRKCG Health Risk Likely pathogenic —
RS2068750338 GDI1 Health Risk Likely pathogenic Intellectual disability, X-linked 41
RS2068755805 GDI1 Health Risk Pathogenic Intellectual disability, X-linked 41
RS2068757385 GDI1 Health Risk Pathogenic Intellectual disability, X-linked 41
RS2068797150 FAM50A Health Risk Likely pathogenic Armfield syndrome, Armfield syndrome
RS2068797171 FAM50A Health Risk Likely pathogenic Armfield syndrome, Armfield syndrome
RS2068797192 FAM50A Health Risk Likely pathogenic Intellectual disability, Armfield syndrome
RS2068825510 NLRP7 Health Risk Likely pathogenic Hydatidiform mole, recurrent
RS2068937789 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2068946379 IRS4 Health Risk Conflicting classifications of pathogenicity —
RS2068947331 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2068947933 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2069047923 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2069052012 MAPK1 Health Risk Pathogenic Macrocephaly, Abnormal facial shape
RS2069070395 NLRP7 Health Risk Pathogenic Hydatidiform mole, recurrent
RS2069103320 PAFAH1B1 Health Risk Pathogenic Lissencephaly, Lissencephaly
RS2069116238 NLRP7 Health Risk Pathogenic Hydatidiform mole, Hydatidiform mole
« Prev 1 ... 1575 1576 1577 1578 1579 1580 1581 ... 4509 Next »

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

Get Started Free →