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
RS2469586114 COL4A3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2469594045 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469594055 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469594241 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469595718 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2469599218 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469606906 COL4A3 Health Risk Pathogenic —
RS2469606943 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469607070 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469607308 COL4A3 Health Risk Conflicting classifications of pathogenicity COL4A3-related disorder, COL4A3-related disorder
RS2469607690 COL4A3 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469607832 COL4A3 Health Risk Pathogenic —
RS2469610905 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469610910 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469610974 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611284 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611287 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611458 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611502 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611590 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611631 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611876 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469611960 DIS3L2 Health Risk Pathogenic Perlman syndrome, Perlman syndrome
RS2469613166 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469614800 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469615248 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2469615872 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469616125 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469616515 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469616583 TRAF3IP1 Health Risk Pathogenic —
RS2469616834 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469617480 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469619638 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469620696 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469620729 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469620766 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469620922 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469621143 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469621168 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469623369 DIS3L2 Health Risk Likely pathogenic Perlman syndrome, Perlman syndrome
RS2469625357 SMARCAL1 Health Risk Pathogenic/Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469625446 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469625449 SMARCAL1 Health Risk Likely pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469628413 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469628915 TTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469629371 MLPH Health Risk Pathogenic —
RS2469629714 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469629904 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469630370 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469631439 TTN Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2469633152 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469633269 SMARCAL1 Health Risk Pathogenic Schimke immuno-osseous dysplasia, Schimke immuno-osseous dysplasia
RS2469633944 COL4A3 Health Risk Pathogenic —
RS2469634017 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Dilated cardiomyopathy 1G
RS2469634052 COL4A3 Health Risk Pathogenic —
RS2469634270 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469634498 COL4A3 Health Risk Conflicting classifications of pathogenicity Autosomal dominant Alport syndrome, Alport syndrome 3b
RS2469634805 COL4A3 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469634847 COL4A3 Health Risk Pathogenic/Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2469636612 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS2469637148 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469637252 BARD1 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2469637256 BARD1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469637444 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469637523 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469637685 BARD1 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2469638141 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469638231 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469638497 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469638641 ZNF142 Health Risk Likely pathogenic Neurodevelopmental disorder with impaired speech and hyperkinetic movements, Neurodevelopmental disorder with impaired speech and hyperkinetic movements
RS2469638965 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469639019 BMPR2 Health Risk Pathogenic Pulmonary arterial hypertension, Primary pulmonary hypertension
RS2469639309 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469639640 BARD1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2469639836 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469639844 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469639907 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469639957 BARD1 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2469640500 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469640549 TTN Health Risk Pathogenic Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS2469640929 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS2469642191 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS2469642822 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2469647888 ECEL1 Health Risk Pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS2469651503 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2469651556 COL4A3 Health Risk Pathogenic Alport syndrome 3b, autosomal recessive
RS2469651883 COL4A3 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS2469652096 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS2469652231 ECEL1 Health Risk Conflicting classifications of pathogenicity Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS2469652289 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469653020 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469653701 ECEL1 Health Risk Likely pathogenic Distal arthrogryposis type 5D, Distal arthrogryposis type 5D
RS2469658167 COL4A3 Health Risk Likely pathogenic COL4A3-related disorder, COL4A3-related disorder
RS2469664049 ARMC9 Health Risk Pathogenic —
RS2469664653 ZNF142 Health Risk Pathogenic —
RS2469665898 TTN Health Risk Pathogenic Primary familial dilated cardiomyopathy, Primary familial dilated cardiomyopathy
RS2469670740 ZNF142 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2469670823 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2469674044 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2469676829 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
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