SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS886044671 ACADVL Health Risk Pathogenic/Likely pathogenic Very long chain acyl-CoA dehydrogenase deficiency, ACADVL-related disorder
RS886044674 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Becker muscular dystrophy
RS886044675 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Dystrophin deficiency
RS886044679 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS886044680 GUSB Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis type 7, Mucopolysaccharidosis type 7
RS886044681 RAI1 Health Risk Pathogenic —
RS886044687 MYOT Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 3, Myofibrillar myopathy 3
RS886044688 SGCA Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS886044692 TRIM32 Health Risk Pathogenic —
RS886044694 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044696 SLC26A4 Health Risk Pathogenic —
RS886044697 ZNF469 Health Risk Pathogenic Cardiovascular phenotype, Brittle cornea syndrome 1
RS886044699 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS886044700 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS886044701 PDHA1 Health Risk Conflicting classifications of pathogenicity Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
RS886044702 COL2A1 Health Risk Likely pathogenic —
RS886044704 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886044708 SALL1 Health Risk Pathogenic —
RS886044709 VIPAS39 Health Risk Conflicting classifications of pathogenicity —
RS886044715 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS886044716 RAB33B Health Risk Pathogenic Smith-McCort dysplasia 2, Smith-McCort dysplasia 2
RS886044717 KCNT1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 14
RS886044718 RBM10 Health Risk Pathogenic TARP syndrome, TARP syndrome
RS886044719 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044720 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS886044721 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044722 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044723 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS886044725 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS886044726 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044727 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044728 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS886044730 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044731 ABCA4 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS886044732 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS886044733 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, ABCA4-related disorder
RS886044735 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3
RS886044736 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044737 ABCA4 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Optic atrophy
RS886044738 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044740 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044741 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044742 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044743 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy
RS886044745 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044746 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS886044747 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Stargardt disease
RS886044749 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044750 ABCA4 Health Risk Pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044752 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044753 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044754 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044755 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS886044756 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044758 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2
RS886044759 ABCA4 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS886044761 ABCA4 Health Risk Pathogenic/Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044762 ABCA4 Health Risk Conflicting classifications of pathogenicity Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044763 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19
RS886044764 ABCA4 Health Risk Likely pathogenic Severe early-childhood-onset retinal dystrophy, Retinal dystrophy
RS886044766 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS886044767 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Fabry disease
RS886044769 ATP7A Health Risk Pathogenic —
RS886044770 MTM1 Health Risk Pathogenic —
RS886044771 EMD Health Risk Pathogenic X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS886044772 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS886044777 ABCD1 Health Risk Pathogenic/Likely pathogenic Adrenoleukodystrophy, ABCD1-related disorder
RS886044778 ATRX Health Risk Conflicting classifications of pathogenicity Alpha thalassemia-X-linked intellectual disability syndrome, Alpha thalassemia-X-linked intellectual disability syndrome
RS886044779 GLA Health Risk Conflicting classifications of pathogenicity Fabry disease, Cardiovascular phenotype
RS886044781 IQSEC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, X-linked 1
RS886044784 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS886044787 FOXP3 Health Risk Pathogenic/Likely pathogenic Insulin-dependent diabetes mellitus secretory diarrhea syndrome, Insulin-dependent diabetes mellitus secretory diarrhea syndrome
RS886044791 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS886044796 PLEC Health Risk Pathogenic —
RS886044818 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex 5C, with pyloric atresia
RS886044819 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS886044822 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS886044823 PQBP1 Health Risk Pathogenic/Likely pathogenic —
RS886044824 FLNA Health Risk Pathogenic —
RS886044828 MYO7A Health Risk Conflicting classifications of pathogenicity —
RS886044829 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS886044834 ELN Health Risk Pathogenic —
RS886044835 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS886044836 PLEC Health Risk Pathogenic/Likely pathogenic —
RS886044837 IDS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-II
RS886044840 MTM1 Health Risk Pathogenic —
RS886044841 CACNA1F Health Risk Pathogenic Aland island eye disease, Congenital stationary night blindness 2A
RS886044843 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS886044845 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS886044846 GLA Health Risk Pathogenic —
RS886044847 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS886044848 EMD Health Risk Conflicting classifications of pathogenicity X-linked Emery-Dreifuss muscular dystrophy, X-linked Emery-Dreifuss muscular dystrophy
RS886044850 FLNA Health Risk Pathogenic —
RS886044851 SMC1A Health Risk Likely pathogenic —
RS886044853 G6PD Health Risk Conflicting classifications of pathogenicity Anemia, nonspherocytic hemolytic
RS886044854 NOTCH2 Health Risk Conflicting classifications of pathogenicity Hajdu-Cheney syndrome, Hajdu-Cheney syndrome
RS886044855 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS886044856 PLEC Health Risk Conflicting classifications of pathogenicity Epidermolysis bullosa simplex, Ogna type
RS886044859 FLNA Health Risk Conflicting classifications of pathogenicity Oto-palato-digital syndrome, type II
RS886044860 GLA Health Risk Pathogenic Fabry disease, Fabry disease
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