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
RS2534072629 DMD Health Risk Pathogenic/Likely pathogenic Duchenne muscular dystrophy, Dilated cardiomyopathy 3B
RS2534074216 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2534077097 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534077244 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Becker muscular dystrophy
RS2534077519 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534077620 IDUA Health Risk Likely pathogenic Hurler syndrome, Hurler syndrome
RS2534078747 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534078931 DMD Health Risk Conflicting classifications of pathogenicity Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2534079094 IDUA Health Risk Likely pathogenic IDUA-related disorder, IDUA-related disorder
RS2534079401 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534082478 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2534082785 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534082809 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534082851 IDUA Health Risk Pathogenic Hurler syndrome, Hurler syndrome
RS2534083260 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534083328 COL10A1 Health Risk Likely pathogenic —
RS2534083333 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534083355 COL10A1 Health Risk Likely pathogenic —
RS2534083665 COL10A1 Health Risk Likely pathogenic —
RS2534083728 COL10A1 Health Risk Likely pathogenic —
RS2534083734 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2534083958 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2534084154 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2534084263 COL10A1 Health Risk Likely pathogenic —
RS2534084287 COL10A1 Health Risk Likely pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2534084292 COL10A1 Health Risk Pathogenic —
RS2534084353 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534084357 COL10A1 Health Risk Pathogenic Metaphyseal chondrodysplasia, Schmid type
RS2534084526 IDUA Health Risk Pathogenic Hurler syndrome, Hurler syndrome
RS2534084554 COL10A1 Health Risk Pathogenic/Likely pathogenic —
RS2534084817 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534084879 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534084987 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534085175 COL10A1 Health Risk Likely pathogenic COL10A1-related disorder, COL10A1-related disorder
RS2534085334 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534085607 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534086833 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534087208 IDUA Health Risk Likely pathogenic IDUA-related core myopathy, Mucopolysaccharidosis type 1
RS2534087492 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534087552 TTN Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS2534089061 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534089112 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534089588 IDUA Health Risk Likely pathogenic —
RS2534089825 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2534089880 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534090058 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534090101 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534092221 IDUA Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis
RS2534092430 IDUA Health Risk Likely pathogenic —
RS2534092933 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534093111 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534093263 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534097045 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534097073 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534097292 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534097623 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534098579 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-I-H/S
RS2534098627 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534099563 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2534099760 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534099860 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534102276 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534102386 IDUA Health Risk Pathogenic Hurler syndrome, IDUA-related disorder
RS2534102903 IDUA Health Risk Likely pathogenic Mucopolysaccharidosis type 1, Hurler syndrome
RS2534104335 IDUA Health Risk Pathogenic Mucopolysaccharidosis type 1, Mucopolysaccharidosis type 1
RS2534108625 TDP2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2534121996 TCOF1 Health Risk Pathogenic TCOF1-related disorder, TCOF1-related disorder
RS2534123110 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534123200 RNF216 Health Risk Pathogenic —
RS2534125699 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2534131357 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534135365 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2534135621 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2534135771 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2534135876 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2534154521 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534154885 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534154891 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534155120 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534159000 DST Health Risk Likely pathogenic Hereditary sensory and autonomic neuropathy type 6, Epidermolysis bullosa simplex 3
RS2534163477 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534163550 DNAH11 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 7
RS2534164126 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534164296 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534164388 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534164401 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534164505 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534165011 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534165015 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534165019 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534165348 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534165795 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2534165871 DNAH11 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2534166712 DNAH11 Health Risk Likely pathogenic Primary ciliary dyskinesia 7, Primary ciliary dyskinesia 7
RS2534171587 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2534173440 EPM2A Health Risk Likely pathogenic Myoclonic epilepsy of Lafora 1, Myoclonic epilepsy of Lafora 1
RS2534173846 EPM2A Health Risk Likely pathogenic Myoclonic epilepsy of Lafora 1, Myoclonic epilepsy of Lafora 1
RS2534174818 EPM2A Health Risk Pathogenic Progressive myoclonic epilepsy, Progressive myoclonic epilepsy
RS2534189976 DEF6 Health Risk Pathogenic —
RS2534207979 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
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