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
RS1553887511 ENAM Health Risk Pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local, Amelogenesis imperfecta - hypoplastic autosomal dominant - local
RS1553887765 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1553887960 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1553888384 ENAM Health Risk Pathogenic Amelogenesis imperfecta type 1C, Amelogenesis imperfecta type 1C
RS1553888778 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1553889111 CEP135 Health Risk Pathogenic —
RS1553889992 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553891012 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, KIT-related disorder
RS1553891368 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553891472 KIT Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553891733 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553891936 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553892090 EVC Health Risk Pathogenic/Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553892376 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553893104 CEP135 Health Risk Likely pathogenic —
RS1553893423 EVC Health Risk Conflicting classifications of pathogenicity Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553893826 TTN Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553894457 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553894675 CEP135 Health Risk Pathogenic —
RS1553895368 CEP135 Health Risk Pathogenic Microcephaly 8, primary
RS1553895447 GABRA2 Health Risk Conflicting classifications of pathogenicity —
RS1553895755 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS1553895776 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1553896398 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553896522 NEB Health Risk Pathogenic Nemaline myopathy 2, Nemaline myopathy 2
RS1553897582 PIGG Health Risk Likely pathogenic —
RS1553897738 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Neuroblastoma
RS1553897780 PHOX2B Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553898065 PHOX2B Health Risk Conflicting classifications of pathogenicity Haddad syndrome, Neuroblastoma
RS1553901249 NEB Health Risk Pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553901266 HNRNPDL Health Risk Conflicting classifications of pathogenicity Autosomal dominant limb-girdle muscular dystrophy type 1G, Autosomal dominant limb-girdle muscular dystrophy type 1G
RS1553901624 NEB Health Risk Pathogenic —
RS1553901823 PROM1 Health Risk Pathogenic/Likely pathogenic Cone-rod dystrophy, Retinal dystrophy
RS1553902375 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Gastrointestinal stromal tumor
RS1553902455 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1553902951 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1553903217 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1553904077 REST Health Risk Likely pathogenic Fibromatosis, gingival
RS1553904177 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1553904346 REST Health Risk Likely pathogenic Fibromatosis, gingival
RS1553904372 DSPP Health Risk Likely pathogenic Pulp calcification, Pulp calcification
RS1553904378 REST Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1553904404 DSPP Health Risk Likely pathogenic Deafness, autosomal dominant 39
RS1553904481 REST Health Risk Conflicting classifications of pathogenicity Fibromatosis, gingival
RS1553904512 DSPP Health Risk Likely pathogenic Pulp calcification, Pulp calcification
RS1553904694 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553905326 WDR19 Health Risk Pathogenic/Likely pathogenic Jeune thoracic dystrophy, Jeune thoracic dystrophy
RS1553906053 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Diffuse midline glioma
RS1553907440 WDR19 Health Risk Pathogenic Asphyxiating thoracic dystrophy 5, Senior-Loken syndrome 8
RS1553908254 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1553909995 TTN Health Risk Likely pathogenic —
RS1553910811 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553913019 SLC4A4 Health Risk Pathogenic Autosomal recessive proximal renal tubular acidosis, Autosomal recessive proximal renal tubular acidosis
RS1553914337 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1553914737 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553914740 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553914762 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553914935 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553915256 TTN Health Risk Likely pathogenic Noncompaction cardiomyopathy, Dilated cardiomyopathy 1G
RS1553915517 TERC Health Risk Pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1553915525 COQ2 Health Risk Likely pathogenic —
RS1553915577 TERC Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1553915580 TERC Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1553915590 TERC Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1553915591 TERC Health Risk Likely pathogenic Dyskeratosis congenita, autosomal dominant 1
RS1553915610 TERC Health Risk Conflicting classifications of pathogenicity Dyskeratosis congenita, autosomal dominant 1
RS1553915612 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1553915617 TERC Health Risk Pathogenic/Likely pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1553915621 TERC Health Risk Pathogenic Pulmonary fibrosis and/or bone marrow failure, Telomere-related
RS1553915717 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, Factor I deficiency
RS1553915731 NEB Health Risk Likely pathogenic Nemaline myopathy 2, Arthrogryposis multiplex congenita 6
RS1553916890 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553916950 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553916957 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917044 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917192 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917209 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS1553917216 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917304 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917318 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553917428 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917455 IDUA Health Risk Pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917483 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917558 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553917566 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917580 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553917627 IDUA Health Risk Conflicting classifications of pathogenicity Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917699 IDUA Health Risk Pathogenic/Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917733 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553917735 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553917737 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553917746 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553917747 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS1553917754 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS1553917756 IDUA Health Risk Likely pathogenic Hurler syndrome, Mucopolysaccharidosis type 1
RS1553918403 WDR19 Health Risk Likely pathogenic Type IV short rib polydactyly syndrome, Senior-Loken syndrome 8
RS1553920188 PPP3CA Health Risk Pathogenic/Likely pathogenic —
RS1553920374 PPP3CA Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS1553920376 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
RS1553920379 PPP3CA Health Risk Pathogenic Developmental and epileptic encephalopathy 91, Developmental and epileptic encephalopathy 91
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