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
RS886043877 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder, Peroxisome biogenesis disorder
RS886043881 TRIM32 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS886043882 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS886043884 DYSF Health Risk Pathogenic/Likely pathogenic —
RS886043888 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043896 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886043900 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886043901 DYSF Health Risk Pathogenic/Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886043903 HNF1B Health Risk Likely pathogenic Maturity-onset diabetes of the young, Renal cysts and diabetes syndrome
RS886043904 JAG1 Health Risk Pathogenic —
RS886043908 PEX6 Health Risk Pathogenic —
RS886043909 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043919 COL6A3 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS886043920 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS886043923 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886043924 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886043926 PLOD1 Health Risk Pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS886043927 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS886043929 DNAH5 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS886043932 CPAP Health Risk Pathogenic —
RS886043934 COL2A1 Health Risk Pathogenic —
RS886043935 ABCB11 Health Risk Pathogenic —
RS886043936 SOX2 Health Risk Pathogenic —
RS886043938 GLI3 Health Risk Conflicting classifications of pathogenicity Pallister-Hall syndrome, Greig cephalopolysyndactyly syndrome
RS886043945 CHD7 Health Risk Pathogenic —
RS886043948 POMT1 Health Risk Conflicting classifications of pathogenicity Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS886043951 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS886043955 DYSF Health Risk Conflicting classifications of pathogenicity Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886043958 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886043959 FKRP Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS886043962 SGCA Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS886043963 SYNE1 Health Risk Pathogenic —
RS886043964 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886043966 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Miyoshi muscular dystrophy 1
RS886043974 POMT2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS886043979 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS886043984 PEX1 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 1A (Zellweger), Zellweger spectrum disorders
RS886043986 ABCB11 Health Risk Pathogenic/Likely pathogenic —
RS886043987 PEX6 Health Risk Conflicting classifications of pathogenicity Peroxisome biogenesis disorder 4A (Zellweger), Peroxisome biogenesis disorder 4A (Zellweger)
RS886043989 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS886043990 AGL Health Risk Likely pathogenic Glycogen storage disease type III, Colon adenocarcinoma
RS886043992 COL6A3 Health Risk Pathogenic/Likely pathogenic —
RS886043993 COL6A3 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Bethlem myopathy 1A
RS886043994 ASXL1 Health Risk Pathogenic/Likely pathogenic Bohring-Opitz syndrome, Bohring-Opitz syndrome
RS886044002 PCARE Health Risk Pathogenic —
RS886044003 PCARE Health Risk Pathogenic —
RS886044004 CAPN3 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886044005 NEB Health Risk Pathogenic —
RS886044009 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044010 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044012 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS886044013 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044017 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886044020 ANO5 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS886044023 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044028 DYSF Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy
RS886044030 COL6A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044031 DMD Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Duchenne muscular dystrophy
RS886044034 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044035 SGCA Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2D, Autosomal recessive limb-girdle muscular dystrophy type 2D
RS886044049 LMNA Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 2, Cardiomyopathy
RS886044051 SMARCAL1 Health Risk Conflicting classifications of pathogenicity Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS886044052 CAPN3 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Muscular dystrophy
RS886044057 ZMPSTE24 Health Risk Pathogenic —
RS886044058 CSPP1 Health Risk Pathogenic Joubert syndrome 21, Joubert syndrome 21
RS886044059 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Holt-Oram syndrome
RS886044060 USH2A Health Risk Pathogenic —
RS886044062 ACTA1 Health Risk Conflicting classifications of pathogenicity —
RS886044069 DNAJB6 Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6), Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
RS886044074 IHH Health Risk Conflicting classifications of pathogenicity IHH-Related Disorders, IHH-Related Disorders
RS886044076 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044077 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044078 DES Health Risk Conflicting classifications of pathogenicity Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS886044081 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886044083 FKRP Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2I, Walker-Warburg congenital muscular dystrophy
RS886044085 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886044088 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886044091 SLC27A5 Health Risk Conflicting classifications of pathogenicity —
RS886044096 TTN Health Risk Likely pathogenic —
RS886044103 SGCB Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2E, Autosomal recessive limb-girdle muscular dystrophy type 2E
RS886044106 TRIM32 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, TRIM32-related disorder
RS886044109 COL1A2 Health Risk Likely pathogenic —
RS886044111 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886044113 MPV17 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), Charcot-Marie-Tooth disease
RS886044116 PIGV Health Risk Conflicting classifications of pathogenicity Hyperphosphatasia with intellectual disability syndrome 1, Hyperphosphatasia with intellectual disability syndrome 1
RS886044118 HEXB Health Risk Conflicting classifications of pathogenicity Sandhoff disease, Sandhoff disease
RS886044119 WDR35 Health Risk Pathogenic/Likely pathogenic SHORT-RIB THORACIC DYSPLASIA 7 WITHOUT POLYDACTYLY, Short rib-polydactyly syndrome
RS886044120 SRCAP Health Risk Conflicting classifications of pathogenicity —
RS886044121 CRX Health Risk Pathogenic —
RS886044125 COL1A1 Health Risk Likely pathogenic —
RS886044126 USH2A Health Risk Conflicting classifications of pathogenicity Retinal dystrophy, Retinal dystrophy
RS886044129 SMCHD1 Health Risk Pathogenic —
RS886044131 DYSF Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2B, Miyoshi muscular dystrophy 1
RS886044132 SGCD Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2F, Inborn genetic diseases
RS886044133 ANO5 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
RS886044135 PCARE Health Risk Pathogenic —
RS886044136 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS886044140 COL6A2 Health Risk Pathogenic —
RS886044141 STXBP1 Health Risk Pathogenic —
RS886044142 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
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