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
RS886042899 CDKL5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 2
RS886042901 NPC1 Health Risk Conflicting classifications of pathogenicity Niemann-Pick disease, type C1
RS886042902 COL6A1 Health Risk Likely pathogenic Bethlem myopathy 1A, COL6A1-related disorder
RS886042903 CAPN3 Health Risk Likely pathogenic —
RS886042904 ABCA4 Health Risk Pathogenic —
RS886042906 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886042907 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS886042916 ENG Health Risk Pathogenic Hereditary hemorrhagic telangiectasia, Hereditary hemorrhagic telangiectasia
RS886042920 DAG1 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
RS886042922 COL6A2 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Myosclerosis
RS886042923 ANO5 Health Risk Conflicting classifications of pathogenicity Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS886042924 FOLR1 Health Risk Conflicting classifications of pathogenicity Cerebral folate transport deficiency, Cerebral folate transport deficiency
RS886042927 CAPN3 Health Risk Pathogenic —
RS886042930 VPS13B Health Risk Pathogenic —
RS886042931 ALDH5A1 Health Risk Conflicting classifications of pathogenicity Succinate-semialdehyde dehydrogenase deficiency, Succinate-semialdehyde dehydrogenase deficiency
RS886042932 COMP Health Risk Likely pathogenic —
RS886042933 HSPG2 Health Risk Conflicting classifications of pathogenicity —
RS886042935 RB1 Health Risk Pathogenic —
RS886042943 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886042945 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886042951 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Autosomal recessive limb-girdle muscular dystrophy type 2B
RS886042954 SYNE1 Health Risk Pathogenic/Likely pathogenic —
RS886042958 GDF5 Health Risk Likely pathogenic Grebe syndrome, Grebe syndrome
RS886042960 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS886042961 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS886042964 CAPN3 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886042968 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886042970 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Neuromuscular disease caused by qualitative or quantitative defects of dysferlin
RS886042976 PLOD1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, kyphoscoliotic type 1
RS886042977 EP300 Health Risk Likely pathogenic —
RS886042979 ROM1 Health Risk Conflicting classifications of pathogenicity —
RS886042983 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS886042995 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS886042996 COL6A3 Health Risk Conflicting classifications of pathogenicity Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS886042997 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043000 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS886043002 KCNJ10 Health Risk Conflicting classifications of pathogenicity EAST syndrome, EAST syndrome
RS886043003 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS886043009 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
RS886043010 COL6A3 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043011 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043012 SYNE1 Health Risk Pathogenic —
RS886043022 PKHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS886043023 NDP Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS886043031 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS886043041 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Cardiomyopathy
RS886043045 PCCA Health Risk Likely pathogenic —
RS886043046 NIPBL Health Risk Pathogenic Squamous cell carcinoma of the head and neck, Squamous cell carcinoma of the head and neck
RS886043051 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043052 DMD Health Risk Pathogenic —
RS886043058 SLC26A4 Health Risk Pathogenic/Likely pathogenic Pendred syndrome, Pendred syndrome
RS886043059 BBS2 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 2, Retinal dystrophy
RS886043061 CLN8 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS886043063 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS886043066 UGT1A1 Health Risk Conflicting classifications of pathogenicity —
RS886043068 GAA Health Risk Conflicting classifications of pathogenicity Glycogen storage disease, type II
RS886043074 ANO5 Health Risk Pathogenic Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
RS886043076 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS886043080 DES Health Risk Pathogenic Desmin-related myofibrillar myopathy, Desmin-related myofibrillar myopathy
RS886043083 SYNE1 Health Risk Conflicting classifications of pathogenicity Emery-Dreifuss muscular dystrophy 4, autosomal dominant
RS886043084 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043086 CHD8 Health Risk Pathogenic —
RS886043087 SIL1 Health Risk Pathogenic —
RS886043088 ASS1 Health Risk Pathogenic —
RS886043090 HCN1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Early-infantile DEE
RS886043091 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS886043095 SMCHD1 Health Risk Conflicting classifications of pathogenicity Facioscapulohumeral muscular dystrophy 2, Facioscapulohumeral muscular dystrophy 2
RS886043096 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa, Usher syndrome
RS886043097 NDP Health Risk Pathogenic/Likely pathogenic Atrophia bulborum hereditaria, Atrophia bulborum hereditaria
RS886043098 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS886043100 DCLRE1C Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, Severe combined immunodeficiency due to DCLRE1C deficiency
RS886043102 RECQL4 Health Risk Pathogenic —
RS886043103 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease type 1B, Maple syrup urine disease type 1B
RS886043106 COL6A1 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043109 LMNA Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease type 2, Emery-Dreifuss muscular dystrophy 2
RS886043110 POMT2 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
RS886043112 GAA Health Risk Pathogenic Glycogen storage disease, type II
RS886043113 COL6A3 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS886043114 COL6A1 Health Risk Pathogenic/Likely pathogenic Ullrich congenital muscular dystrophy 1A, Bethlem myopathy 1A
RS886043118 STAT1 Health Risk Pathogenic Immunodeficiency 31B, Immunodeficiency 31B
RS886043123 ACVRL1 Health Risk Pathogenic Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia, Pulmonary arterial hypertension related to hereditary hemorrhagic telangiectasia
RS886043129 GRIN2A Health Risk Pathogenic —
RS886043130 JAG1 Health Risk Pathogenic —
RS886043131 NPC1 Health Risk Pathogenic/Likely pathogenic —
RS886043133 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS886043136 OPA1 Health Risk Pathogenic —
RS886043138 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS886043139 HYCC1 Health Risk Pathogenic —
RS886043143 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886043144 CAPN3 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2A, Autosomal recessive limb-girdle muscular dystrophy type 2A
RS886043145 DYSF Health Risk Pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dysferlin, Distal myopathy with anterior tibial onset
RS886043146 SMCHD1 Health Risk Pathogenic —
RS886043147 COL6A1 Health Risk Pathogenic —
RS886043148 GAA Health Risk Likely pathogenic Glycogen storage disease, type II
RS886043149 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
RS886043155 LRMDA Health Risk Pathogenic —
RS886043157 DMD Health Risk Pathogenic —
RS886043158 FLNB Health Risk Pathogenic —
RS886043162 SYNE1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive ataxia, Beauce type
RS886043164 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
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