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
RS794728234 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728235 FBN1 Health Risk Likely pathogenic —
RS794728236 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS794728237 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728238 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS794728239 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS794728240 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728241 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS794728242 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728244 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS794728245 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS794728246 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS794728247 FBN1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS794728249 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728250 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728251 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728252 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728253 FBN1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS794728254 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728255 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728256 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728257 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Marfan syndrome
RS794728262 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728263 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728264 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728265 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728266 FBN1 Health Risk Pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS794728267 FBN1 Health Risk Likely pathogenic —
RS794728269 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728270 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728271 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Marfan syndrome
RS794728272 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728274 FBN1 Health Risk Likely pathogenic —
RS794728276 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728280 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections, Marfan syndrome
RS794728281 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728282 FBN1 Health Risk Pathogenic —
RS794728283 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728288 FBN1 Health Risk Pathogenic/Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Marfan syndrome
RS794728289 FBN1 Health Risk Pathogenic —
RS794728290 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728291 FBN1 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Familial thoracic aortic aneurysm and aortic dissection
RS794728292 FBN1 Health Risk Likely pathogenic Marfan syndrome, Marfan syndrome
RS794728293 FBN1 Health Risk Likely pathogenic —
RS794728296 FBN1 Health Risk Pathogenic —
RS794728297 FBN1 Health Risk Pathogenic —
RS794728299 FBN1 Health Risk Pathogenic —
RS794728300 FBN1 Health Risk Likely pathogenic —
RS794728301 FBN1 Health Risk Pathogenic —
RS794728302 FBN1 Health Risk Pathogenic —
RS794728303 FBN1 Health Risk Pathogenic —
RS794728304 FBN1 Health Risk Pathogenic —
RS794728305 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS794728306 FBN1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS794728308 FBN1 Health Risk Pathogenic Marfan syndrome, FBN1-related disorder
RS794728309 FBN1 Health Risk Pathogenic —
RS794728310 FBN1 Health Risk Pathogenic —
RS794728311 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728312 FBN1 Health Risk Pathogenic —
RS794728313 FBN1 Health Risk Pathogenic —
RS794728314 FBN1 Health Risk Pathogenic —
RS794728317 FBN1 Health Risk Pathogenic —
RS794728318 FBN1 Health Risk Pathogenic —
RS794728319 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728320 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728321 FBN1 Health Risk Pathogenic Marfan syndrome, Marfan syndrome
RS794728322 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728323 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728324 FBN1 Health Risk Pathogenic —
RS794728325 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728326 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728327 FBN1 Health Risk Likely pathogenic —
RS794728329 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728331 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728333 FBN1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Marfan syndrome
RS794728334 FBN1 Health Risk Pathogenic Marfan syndrome, 8 conditions
RS794728335 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728336 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728337 FBN1 Health Risk Pathogenic/Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728338 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728339 FBN1 Health Risk Likely pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728340 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS794728341 FBN1 Health Risk Pathogenic —
RS794728342 FBN1 Health Risk Pathogenic —
RS794728343 FBN1 Health Risk Pathogenic —
RS794728344 FBN1 Health Risk Pathogenic —
RS794728346 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS794728351 KCNH2 Health Risk Pathogenic —
RS794728352 KCNH2 Health Risk Likely pathogenic —
RS794728360 KCNH2 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS794728364 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS794728365 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS794728366 KCNH2 Health Risk Pathogenic Long QT syndrome, Cardiovascular phenotype
RS794728368 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS794728369 KCNH2 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, KCNH2-related disorder
RS794728370 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Long QT syndrome
RS794728372 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS794728373 KCNH2 Health Risk Likely pathogenic —
RS794728374 KCNH2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Cardiovascular phenotype
RS794728375 KCNH2 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
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