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
RS193922689 FKTN Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
RS193922696 PRKAG2 Health Risk Conflicting classifications of pathogenicity Primary familial hypertrophic cardiomyopathy, Lethal congenital glycogen storage disease of heart
RS193922697 PRKAG2 Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Hypertrophic cardiomyopathy
RS193922699 RET Health Risk Likely pathogenic Hirschsprung disease, susceptibility to
RS193922700 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia type 2A, Multiple endocrine neoplasia
RS193922701 FGF23 Health Risk Likely pathogenic Autosomal dominant hypophosphatemic rickets, Autosomal dominant hypophosphatemic rickets
RS193922702 FGF23 Health Risk Pathogenic Autosomal dominant hypophosphatemic rickets, Hypophosphatemic rickets
RS193922703 AICDA Health Risk Pathogenic/Likely pathogenic Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS193922704 AICDA Health Risk Conflicting classifications of pathogenicity Hyper-IgM syndrome type 2, Hyper-IgM syndrome type 2
RS193922705 JUP Health Risk Conflicting classifications of pathogenicity Naxos disease, Arrhythmogenic right ventricular cardiomyopathy
RS193922706 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS193922707 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Emery-Dreifuss muscular dystrophy 7
RS193922708 DSC2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 11
RS193922709 BBS1 Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Bardet-Biedl syndrome
RS193922710 BBS2 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS193922711 BBS2 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 2
RS193922712 MYLK2 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy 1
RS193922716 STAT3 Health Risk Pathogenic/Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS193922717 STAT3 Health Risk Pathogenic/Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS193922719 STAT3 Health Risk Conflicting classifications of pathogenicity Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS193922720 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS193922721 STAT3 Health Risk Pathogenic/Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS193922722 STAT3 Health Risk Likely pathogenic Hyper-IgE recurrent infection syndrome 1, autosomal dominant
RS193922723 AKAP9 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiac arrhythmia
RS193922727 SCN5A Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Cardiovascular phenotype
RS193922728 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiac arrhythmia
RS193922730 CFTR Health Risk Pathogenic Cystic fibrosis, Bronchiectasis with or without elevated sweat chloride 1
RS193922732 CFTR Health Risk Pathogenic Cystic fibrosis, Cystic fibrosis
RS193922740 CD247 Health Risk Pathogenic Immunodeficiency 25, Immunodeficiency 25
RS193922741 CD247 Health Risk Pathogenic Immunodeficiency 25, Immunodeficiency 25
RS193922744 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922746 RYR1 Health Risk Likely pathogenic King Denborough syndrome, Malignant hyperthermia
RS193922750 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922757 RYR1 Health Risk Pathogenic RYR1-related disorder, Malignant hyperthermia
RS193922758 RYR1 Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS193922761 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS193922766 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS193922769 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS193922771 RYR1 Health Risk Conflicting classifications of pathogenicity Congenital multicore myopathy with external ophthalmoplegia, RYR1-related disorder
RS193922772 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS193922774 RYR1 Health Risk Pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS193922778 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922781 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922786 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS193922787 RYR1 Health Risk Likely pathogenic Central core myopathy, King Denborough syndrome
RS193922788 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS193922791 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS193922792 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia
RS193922797 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922801 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922805 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922807 RYR1 Health Risk Likely pathogenic enflurane response - Toxicity, desflurane response - Toxicity
RS193922808 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS193922809 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922810 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922812 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922814 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS193922816 RYR1 Health Risk Likely pathogenic Malignant hyperthermia of anesthesia, RYR1-related disorder
RS193922826 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia of anesthesia
RS193922837 RYR1 Health Risk Pathogenic RYR1-related disorder, Inborn genetic diseases
RS193922839 RYR1 Health Risk Conflicting classifications of pathogenicity Progressive distal muscle weakness, Pelvic girdle muscle weakness
RS193922842 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922844 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS193922846 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS193922847 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS193922852 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia, Malignant hyperthermia
RS193922854 RYR1 Health Risk Conflicting classifications of pathogenicity Central core myopathy, Congenital multicore myopathy with external ophthalmoplegia
RS193922856 RYR1 Health Risk Pathogenic Neuromuscular disease, congenital
RS193922867 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Malignant hyperthermia of anesthesia
RS193922868 RYR1 Health Risk Pathogenic RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS193922870 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS193922875 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS193922884 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Central core myopathy
RS193922886 RYR1 Health Risk Pathogenic Congenital multicore myopathy with external ophthalmoplegia, Congenital multicore myopathy with external ophthalmoplegia
RS193922887 RYR1 Health Risk Pathogenic RYR1-related disorder, Central core myopathy
RS193922888 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS193922892 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS193922893 RYR1 Health Risk Likely pathogenic Central core myopathy, Central core myopathy
RS193922894 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS193922895 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS193922897 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS193922900 COMP Health Risk Pathogenic Multiple epiphyseal dysplasia type 1, Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome
RS193922906 PRNP Health Risk Pathogenic Huntington disease-like 1, Inherited Creutzfeldt-Jakob disease
RS193922915 NEU1 Health Risk Likely pathogenic Sialidosis type 2, Sialidosis type 2
RS193922916 APP Health Risk Pathogenic Alzheimer disease, Alzheimer disease
RS193922920 KIF22 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations, Spondyloepimetaphyseal dysplasia with multiple dislocations
RS193922921 KIF22 Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations, Inborn genetic diseases
RS193922922 KIF22 Health Risk Pathogenic/Likely pathogenic Spondyloepimetaphyseal dysplasia with multiple dislocations, Inborn genetic diseases
RS193922926 ATXN1 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 1, ATXN1-related disorder
RS193922927 ATXN2 Health Risk Pathogenic Amyotrophic lateral sclerosis, Spinocerebellar ataxia type 2
RS193922928 ATXN3 Health Risk Pathogenic; risk factor Azorean disease, Parkinson disease
RS193922929 ATXN7 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia 7, ATXN7-related disorder
RS193922936 FMR1 Health Risk Conflicting classifications of pathogenicity Fragile X syndrome, Fragile X syndrome
RS193922937 AFF2 Health Risk Pathogenic FRAXE, FRAXE
RS193922938 FXN Health Risk Pathogenic Friedreich ataxia 1, Friedreich ataxia 1
RS193922941 PABPN1 Health Risk Pathogenic Oculopharyngeal muscular dystrophy 1, Oculopharyngeal muscular dystrophy
RS1939234862 NPHP3 Health Risk Pathogenic Nephronophthisis, Nephronophthisis
RS1939239442 NPHP3;NPHP3-ACAD11 Health Risk Likely pathogenic Renal-hepatic-pancreatic dysplasia, Renal-hepatic-pancreatic dysplasia
RS1939280733 COL2A1 Health Risk Likely pathogenic —
RS1939281881 COL2A1 Health Risk Pathogenic/Likely pathogenic Connective tissue disorder, Avascular necrosis of femoral head
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