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
RS1651768254 RNF2 Health Risk Pathogenic Luo-Schoch-Yamamoto syndrome, Luo-Schoch-Yamamoto syndrome
RS1651769432 FLG Health Risk Likely pathogenic Dermatitis, atopic
RS1651811244 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1651856824 MSH4 Health Risk Likely pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS1651872905 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651876607 LMNA Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Cardiovascular phenotype
RS1651876879 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651877300 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651879427 GJA8 Health Risk Pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS1651880905 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651881222 GJA8 Health Risk Pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS1651881638 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1651881949 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651883514 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651887395 GJA8 Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis, Cataract 1 multiple types
RS1651887603 GJA8 Health Risk Conflicting classifications of pathogenicity Anterior segment dysgenesis, Cataract 1 multiple types
RS1651890566 HSD3B2 Health Risk Pathogenic —
RS1651901764 HSD3B2 Health Risk Pathogenic —
RS1651905495 HSD3B2 Health Risk Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS1651907319 ATP1A2 Health Risk Likely pathogenic Migraine, familial hemiplegic
RS1651909230 HSD3B2 Health Risk Likely pathogenic —
RS1651911095 HSD3B2 Health Risk Likely pathogenic 3 beta-Hydroxysteroid dehydrogenase deficiency, 3 beta-Hydroxysteroid dehydrogenase deficiency
RS1651918704 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS1651919374 GJA8 Health Risk Pathogenic Cataract 1 multiple types, Cataract 1 multiple types
RS1651921400 FLG Health Risk Pathogenic —
RS1651922528 ATP1A2 Health Risk Likely pathogenic —
RS1651922680 GJA8 Health Risk Conflicting classifications of pathogenicity GJA8-related disorder, GJA8-related disorder
RS1651940013 AGL Health Risk Conflicting classifications of pathogenicity Glycogen storage disease type III, Glycogen storage disease type III
RS1651940183 GJA8 Health Risk Conflicting classifications of pathogenicity Cataract 1 multiple types, Cataract 1 multiple types
RS1651944837 ATP1A2 Health Risk Pathogenic Familial hemiplegic migraine, Familial hemiplegic migraine
RS1651951474 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1651959213 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1651972168 HS2ST1 Health Risk Pathogenic NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS, NEUROFACIOSKELETAL SYNDROME WITHOUT RENAL AGENESIS
RS1651972956 ATP1A2 Health Risk Conflicting classifications of pathogenicity Migraine, familial hemiplegic
RS1651973144 HS2ST1 Health Risk Pathogenic Neurofacioskeletal syndrome with or without renal agenesis, Neurofacioskeletal syndrome with or without renal agenesis
RS1651973884 ATP1A2 Health Risk Likely pathogenic —
RS1651974671 ATP1A2 Health Risk Likely pathogenic Migraine, familial hemiplegic
RS1651975273 ATP1A2 Health Risk Likely pathogenic —
RS1652001620 FLG Health Risk Pathogenic —
RS1652003965 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652017784 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652018859 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652044207 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652081123 DRAM2 Health Risk Pathogenic —
RS1652094925 SPTA1 Health Risk Pathogenic SPTA1-related disorder, SPTA1-related disorder
RS1652115764 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS1652116565 SZT2 Health Risk Pathogenic —
RS1652150288 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1652150709 FLG Health Risk Pathogenic —
RS1652152909 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1652173183 SZT2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 18
RS1652224758 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1652267866 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652268068 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652276195 PHGDH Health Risk Likely pathogenic PHGDH deficiency, Neu-Laxova syndrome 1
RS1652276791 PHGDH Health Risk Pathogenic PHGDH deficiency, PHGDH deficiency
RS1652293307 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652306026 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652311421 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1652352034 P3H1 Health Risk Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1652478579 HJV Health Risk Pathogenic —
RS1652488301 HJV Health Risk Pathogenic —
RS1652494092 HJV Health Risk Conflicting classifications of pathogenicity Hemochromatosis type 2A, Hemochromatosis type 2A
RS1652495294 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1652529952 WNT2B Health Risk Conflicting classifications of pathogenicity Diarrhea 9, Diarrhea 9
RS1652531375 SPTA1 Health Risk Pathogenic —
RS1652538079 HJV Health Risk Pathogenic —
RS1652551021 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, P3H1-related disorder
RS1652568567 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1652577586 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652583223 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652590413 SPTA1 Health Risk Pathogenic Elliptocytosis 2, Elliptocytosis 2
RS1652592444 HJV Health Risk Pathogenic/Likely pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS1652593007 WNT2B Health Risk Conflicting classifications of pathogenicity Diarrhea 9, Diarrhea 9
RS1652673428 DARS2 Health Risk Likely pathogenic Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome, Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
RS1652686086 FLG Health Risk Likely pathogenic —
RS1652768821 P3H1 Health Risk Pathogenic/Likely pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1652784548 CFH Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1652807016 HMGCS2 Health Risk Pathogenic/Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1652848700 SPTA1 Health Risk Pathogenic —
RS1652849551 SPTA1 Health Risk Pathogenic —
RS1652870529 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652875135 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1652877420 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652879873 AGL Health Risk Pathogenic/Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652885754 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652885850 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1652887200 SZT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1652906180 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652909202 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652918497 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS1652924886 MYOC Health Risk Likely pathogenic Open-angle glaucoma, Open-angle glaucoma
RS1652955748 HMGCS2 Health Risk Pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
RS1652985519 AGL Health Risk Pathogenic Glycogen storage disease type III, Glycogen storage disease type III
RS1652987369 CFH Health Risk Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1652989506 CFH Health Risk Pathogenic Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1653010161 P3H1 Health Risk Pathogenic Osteogenesis imperfecta type 8, Osteogenesis imperfecta type 8
RS1653042358 CFH Health Risk Pathogenic, low penetrance Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS1653045638 CFH Health Risk Pathogenic —
RS1653132966 HMGCS2 Health Risk Likely pathogenic 3-hydroxy-3-methylglutaryl-CoA synthase deficiency, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
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