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
RS2505099370 SLC12A1 Health Risk Pathogenic —
RS2505099397 SLC12A1 Health Risk Pathogenic —
RS2505099559 SLC12A1 Health Risk Pathogenic —
RS2505120564 SLC12A1 Health Risk Pathogenic —
RS2505136920 SLC12A1 Health Risk Likely pathogenic —
RS2505137296 SLC12A1 Health Risk Pathogenic —
RS2505137368 SLC12A1 Health Risk Pathogenic —
RS2505141958 SLC12A1 Health Risk Likely pathogenic —
RS2505162652 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505163374 OCA2 Health Risk Conflicting classifications of pathogenicity Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2505163641 OCA2 Health Risk Pathogenic —
RS2505172270 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505173672 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505176651 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505177370 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia 11
RS2505182645 SLC12A1 Health Risk Pathogenic —
RS2505184483 MESP2 Health Risk Pathogenic —
RS2505184605 MESP2 Health Risk Pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS2505184685 MESP2 Health Risk Pathogenic Spondylocostal dysostosis 2, autosomal recessive
RS2505184696 MESP2 Health Risk Pathogenic —
RS2505184851 MESP2 Health Risk Pathogenic —
RS2505185403 MESP2 Health Risk Pathogenic —
RS2505185436 MESP2 Health Risk Pathogenic —
RS2505185579 MESP2 Health Risk Pathogenic —
RS2505185594 MESP2 Health Risk Pathogenic —
RS2505185703 SPG11 Health Risk Likely pathogenic —
RS2505185716 MESP2 Health Risk Pathogenic —
RS2505185781 MESP2 Health Risk Pathogenic —
RS2505185956 MESP2 Health Risk Pathogenic —
RS2505186262 MESP2 Health Risk Pathogenic —
RS2505186780 SPG11 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2505187482 MESP2 Health Risk Pathogenic —
RS2505190299 SLC12A1 Health Risk Likely pathogenic Bartter syndrome, Bartter syndrome
RS2505190434 SLC12A1 Health Risk Pathogenic —
RS2505191463 SLC12A1 Health Risk Likely pathogenic —
RS2505192006 SLC12A1 Health Risk Likely pathogenic See cases, See cases
RS2505197931 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505205547 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505206459 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505207581 ACAN Health Risk Pathogenic —
RS2505209009 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505209286 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505210242 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2505213278 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2505218930 SLC12A1 Health Risk Pathogenic —
RS2505218935 SLC12A1 Health Risk Pathogenic —
RS2505219470 SLC12A1 Health Risk Pathogenic —
RS2505220763 ACAN Health Risk Pathogenic —
RS2505221112 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505221117 ACAN Health Risk Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2505221225 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505221578 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505222600 SMAD3 Health Risk Likely pathogenic SMAD3-related disorder, SMAD3-related disorder
RS2505222700 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505222846 ACAN Health Risk Likely pathogenic —
RS2505223192 ACAN Health Risk Pathogenic Inborn genetic diseases, Short stature and advanced bone age
RS2505223464 ACAN Health Risk Pathogenic —
RS2505225464 SLC12A1 Health Risk Pathogenic —
RS2505225672 SLC12A1 Health Risk Likely pathogenic SLC12A1-related disorder, SLC12A1-related disorder
RS2505227410 MEIS2 Health Risk Likely pathogenic Cardiac malformation, cleft lip/palate
RS2505229146 SPG11 Health Risk Likely pathogenic SPG11-related disorder, SPG11-related disorder
RS2505229373 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505229607 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505229934 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505230282 SPG11 Health Risk Likely pathogenic SPG11-related disorder, SPG11-related disorder
RS2505230922 ACAN Health Risk Pathogenic —
RS2505231171 ACAN Health Risk Pathogenic —
RS2505238309 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505238680 ABCD4 Health Risk Pathogenic Methylmalonic acidemia with homocystinuria, type cblJ
RS2505239376 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505239464 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2505239545 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2505239786 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505240838 ACAN Health Risk Likely pathogenic —
RS2505241670 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2505242245 ACAN Health Risk Likely pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2505246796 MEIS2 Health Risk Likely pathogenic MEIS2-related disorder, MEIS2-related disorder
RS2505250008 ACAN Health Risk Likely pathogenic —
RS2505250018 ACAN Health Risk Pathogenic Short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans
RS2505251299 ACAN Health Risk Likely pathogenic ACAN-related disorder, ACAN-related disorder
RS2505251328 ACAN Health Risk Pathogenic —
RS2505260952 ACAN Health Risk Pathogenic —
RS2505261152 ACAN Health Risk Pathogenic —
RS2505261482 ACAN Health Risk Pathogenic —
RS2505263453 ACAN Health Risk Pathogenic —
RS2505270713 MEIS2 Health Risk Pathogenic Cardiac malformation, cleft lip/palate
RS2505271040 MEIS2 Health Risk Pathogenic —
RS2505271823 ACAN Health Risk Pathogenic —
RS2505272471 ACAN Health Risk Pathogenic —
RS2505275760 ACAN Health Risk Pathogenic —
RS2505278859 OCA2 Health Risk Likely pathogenic —
RS2505282185 OCA2 Health Risk Likely pathogenic SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES
RS2505282696 SMAD3 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505282768 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505282958 SMAD3 Health Risk Likely pathogenic Aneurysm-osteoarthritis syndrome, Aneurysm-osteoarthritis syndrome
RS2505283146 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505283231 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505283996 SMAD3 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2505284032 SMAD3 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Aneurysm-osteoarthritis syndrome
RS2505284100 SMAD3 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
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