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
RS398123681 IVD Health Risk Pathogenic/Likely pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS398123682 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS398123683 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS398123684 IVD Health Risk Pathogenic Isovaleryl-CoA dehydrogenase deficiency, Isovaleryl-CoA dehydrogenase deficiency
RS398123685 LAMP2 Health Risk Pathogenic —
RS398123686 MEF2C Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder with hypotonia, stereotypic hand movements
RS398123688 PRKCSH Health Risk Pathogenic —
RS398123690 SDHB Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS398123692 SLC22A5 Health Risk Conflicting classifications of pathogenicity Renal carnitine transport defect, Decreased circulating carnitine concentration
RS398123693 SOX2 Health Risk Likely pathogenic Anophthalmia/microphthalmia-esophageal atresia syndrome, Septo-optic dysplasia sequence
RS398123695 STXBP1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 4
RS398123697 UMOD Health Risk Pathogenic/Likely pathogenic Familial juvenile hyperuricemic nephropathy type 1, UMOD-related disorder
RS398123698 UMOD Health Risk Pathogenic —
RS398123699 KMT2D Health Risk Pathogenic —
RS398123700 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS398123701 KMT2D Health Risk Pathogenic —
RS398123702 KMT2D Health Risk Pathogenic —
RS398123703 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123704 KMT2D Health Risk Pathogenic Kabuki syndrome, Kabuki syndrome
RS398123705 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS398123706 KMT2D Health Risk Pathogenic —
RS398123708 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS398123709 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123710 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
RS398123711 KMT2D Health Risk Pathogenic Branchial cleft anomaly, Branchial cleft anomaly
RS398123712 KMT2D Health Risk Pathogenic —
RS398123713 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123714 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS398123715 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS398123716 KMT2D Health Risk Pathogenic/Likely pathogenic —
RS398123717 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123719 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS398123720 KMT2D Health Risk Pathogenic —
RS398123721 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS398123722 KMT2D Health Risk Pathogenic —
RS398123723 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS398123724 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome 1, Kabuki syndrome
RS398123725 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome, Kabuki syndrome 1
RS398123726 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123727 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123728 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS398123729 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS398123732 KMT2D Health Risk Pathogenic —
RS398123733 KMT2D Health Risk Pathogenic —
RS398123734 KMT2D Health Risk Likely pathogenic Kabuki syndrome 1, KMT2D-related disorder
RS398123735 KMT2D Health Risk Pathogenic —
RS398123736 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS398123737 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123738 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS398123739 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123741 KMT2D Health Risk Pathogenic —
RS398123743 KMT2D Health Risk Pathogenic —
RS398123744 KMT2D Health Risk Pathogenic/Likely pathogenic Kabuki syndrome 1, Kabuki syndrome
RS398123747 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123750 KMT2D Health Risk Pathogenic —
RS398123751 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome 1
RS398123753 KMT2D Health Risk Pathogenic Kabuki syndrome 1, Kabuki syndrome
RS398123754 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123755 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123756 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS398123757 KMT2D Health Risk Pathogenic —
RS398123758 KMT2D Health Risk Pathogenic —
RS398123759 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, Kabuki syndrome
RS398123762 KMT2D Health Risk Conflicting classifications of pathogenicity Kabuki syndrome, KMT2D-related disorder
RS398123763 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123764 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS398123765 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123767 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123768 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123769 DYSF Health Risk Pathogenic —
RS398123770 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS398123771 DYSF Health Risk Pathogenic —
RS398123772 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS398123773 DYSF Health Risk Pathogenic Distal myopathy with anterior tibial onset, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123774 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS398123775 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123776 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123777 DYSF Health Risk Pathogenic Miyoshi muscular dystrophy 1, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123778 DYSF Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123780 DYSF Health Risk Pathogenic/Likely pathogenic Miyoshi muscular dystrophy 1, Miyoshi muscular dystrophy 1
RS398123781 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS398123782 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS398123783 DYSF Health Risk Pathogenic —
RS398123784 DYSF Health Risk Pathogenic —
RS398123786 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS398123787 DYSF Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123788 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS398123789 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123790 DYSF Health Risk Pathogenic —
RS398123791 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS398123792 DYSF Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS398123793 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123794 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123795 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123796 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS398123797 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123798 DYSF Health Risk Pathogenic —
RS398123799 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123800 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS398123802 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
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