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
RS62638187 RDH5 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS62638191 RDH5 Health Risk Pathogenic/Likely pathogenic Fundus albipunctatus, autosomal recessive
RS62638193 RDH5 Health Risk Pathogenic/Likely pathogenic Fundus albipunctatus, autosomal recessive
RS62638194 RDH5 Health Risk Pathogenic Fundus albipunctatus, autosomal recessive
RS62638195 RDH5 Health Risk Conflicting classifications of pathogenicity Pigmentary retinal dystrophy, Pigmentary retinal dystrophy
RS62638197 GRM6 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness
RS62638202 GRM6 Health Risk Likely pathogenic Congenital stationary night blindness 1B, Congenital stationary night blindness 1B
RS62638214 GRM6 Health Risk Pathogenic Congenital stationary night blindness 1B, Retinal dystrophy
RS62638619 GRM6 Health Risk Conflicting classifications of pathogenicity —
RS62638624 GRM6 Health Risk Pathogenic Congenital stationary night blindness 1B, Retinal dystrophy
RS62638626 RPGR Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS62638627 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS62638632 RPGR Health Risk Pathogenic —
RS62638633 RPGR Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS62638634 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS62638637 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinal dystrophy
RS62638639 RPGR Health Risk Pathogenic RPGR-related retinopathy, Primary ciliary dyskinesia
RS62638640 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS62638641 RPGR Health Risk Pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS62638642 RPGR Health Risk Pathogenic Retinal dystrophy, Primary ciliary dyskinesia
RS62638643 RPGR Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Primary ciliary dyskinesia
RS62638645 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS62638646 RPGR Health Risk Pathogenic Retinitis pigmentosa, X-linked
RS62638648 RPGR Health Risk Likely pathogenic Retinal dystrophy, Nonpapillary renal cell carcinoma
RS62638649 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS62638651 RPGR Health Risk Pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS62638652 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS62638653 RPGR Health Risk Pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS62638654 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS62638655 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, RPGR-related retinopathy
RS62638744 EPOR Health Risk Conflicting classifications of pathogenicity Primary familial polycythemia due to EPO receptor mutation, Primary familial polycythemia due to EPO receptor mutation
RS62639270 BEST1 Health Risk Likely pathogenic BEST1-related disorder, BEST1-related disorder
RS62639356 BEST1 Health Risk Conflicting classifications of pathogenicity Vitelliform macular dystrophy 2, Autosomal dominant vitreoretinochoroidopathy
RS62639705 DNAH9 Health Risk Conflicting classifications of pathogenicity DNAH9-related disorder, Inborn genetic diseases
RS62639975 TUBB1 Health Risk Conflicting classifications of pathogenicity TUBB1-related disorder, TUBB1-related disorder
RS62639993 ZFHX3 Health Risk Conflicting classifications of pathogenicity —
RS62640000 ZFHX3 Health Risk Conflicting classifications of pathogenicity ZFHX3-related disorder, ZFHX3-related disorder
RS62640001 ZFHX3 Health Risk Conflicting classifications of pathogenicity —
RS62640002 EXOSC3 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 1B, EXOSC3-related disorder
RS62640017 RLBP1 Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Newfoundland cone-rod dystrophy
RS62640025 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS62640027 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS62640028 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS62640030 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS62640033 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS62640034 POLG Health Risk Conflicting classifications of pathogenicity POLG-related disorder, Progressive sclerosing poliodystrophy
RS62640035 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, POLG-related disorder
RS62640040 FOXN1 Health Risk Conflicting classifications of pathogenicity T-cell immunodeficiency, congenital alopecia
RS62640381 OTOF Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 9, Autosomal recessive nonsyndromic hearing loss 9
RS62640387 MAP7D3 Health Risk Conflicting classifications of pathogenicity —
RS62640570 CEP290 Health Risk Pathogenic Meckel syndrome, type 4
RS62640572 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS62640574 CEP290 Health Risk Pathogenic Leber congenital amaurosis, Nephronophthisis
RS62640578 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS62640579 CEP290 Health Risk Pathogenic Meckel-Gruber syndrome, Nephronophthisis
RS62640580 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS62640581 CEP290 Health Risk Pathogenic Joubert syndrome 5, Nephronophthisis
RS62640582 CEP290 Health Risk Pathogenic Nephronophthisis, Joubert syndrome
RS62640583 RPGR Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS62640586 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS62640588 RPGR Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS62640589 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa 3
RS62640590 RPGR Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Retinal dystrophy
RS62640592 RPGR Health Risk Pathogenic RPGR-related retinopathy, Retinal dystrophy
RS62640594 RPGR Health Risk Pathogenic RPGR-related retinopathy, RPGR-related retinopathy
RS62640932 ATP2C2 Health Risk Conflicting classifications of pathogenicity ATP2C2-related disorder, ATP2C2-related disorder
RS62641225 PEX10 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, complementation group 7
RS62641228 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7B, Peroxisome biogenesis disorder
RS62641229 PEX26 Health Risk Pathogenic Peroxisome biogenesis disorder 7A (Zellweger), Peroxisome biogenesis disorder 7A (Zellweger)
RS62641230 PEX3 Health Risk Pathogenic Peroxisome biogenesis disorder 10A (Zellweger), Peroxisome biogenesis disorder 10A (Zellweger)
RS62641231 PEX6 Health Risk Pathogenic Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS62641232 PEX6 Health Risk Pathogenic/Likely pathogenic Peroxisome biogenesis disorder, Zellweger spectrum disorders
RS62641234 MECP2 Health Risk Pathogenic Rett syndrome, Rett syndrome
RS62641235 CDKL5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 2
RS62641253 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS62641623 OTOF Health Risk Conflicting classifications of pathogenicity Childhood onset hearing loss, Childhood onset hearing loss
RS62641679 DGUOK Health Risk Conflicting classifications of pathogenicity DGUOK-related disorder, DGUOK-related disorder
RS62641689 HCN4 Health Risk Conflicting classifications of pathogenicity Sudden cardiac death, Cardiovascular phenotype
RS62641715 DPAGT1 Health Risk Conflicting classifications of pathogenicity DPAGT1-congenital disorder of glycosylation, Congenital myasthenic syndrome 13
RS62642055 KRT4 Health Risk Pathogenic White sponge nevus 1, White sponge nevus 1
RS62642056 KRT5 Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Epidermolysis bullosa simplex 2A
RS62642057 RPGR Health Risk Likely pathogenic Retinitis pigmentosa 3, Retinitis pigmentosa
RS62642094 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642095 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS62642462 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS62642478 FASN Health Risk Conflicting classifications of pathogenicity Epileptic encephalopathy, Epileptic encephalopathy
RS62642481 TSC2 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis syndrome, Hereditary cancer-predisposing syndrome
RS62642502 HSPG2 Health Risk Conflicting classifications of pathogenicity Lethal Kniest-like syndrome, Schwartz-Jampel syndrome
RS62642516 SOX17 Health Risk Conflicting classifications of pathogenicity SOX17-related disorder, Inborn genetic diseases
RS62642560 ABCA4 Health Risk Pathogenic Cone-rod dystrophy 3, Cone-rod dystrophy 3
RS62642562 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62642564 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Macular dystrophy
RS62642565 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62642569 ABCA4 Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS62642570 ABCA4 Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS62642573 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62642574 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, maculopathy
RS62642575 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS62642576 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS62642579 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, ABCA4-related retinopathy
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