rs28933979, TTR

N. diseases: 70
Disease: Spinocerebellar Ataxia Type 1 ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Spinocerebellar Ataxia Type 1
CUI: C0752120
Disease: Spinocerebellar Ataxia Type 1
0.010 GeneticVariation BEFREE The present study demonstrates, at the pathological level, that Val30Met TTR FAP and SCA1 coexist in the same family members, and that the CNS dysfunction seen in the patients in this family is ascribable to SCA1 pathology but not to CNS amyloidosis. 15523922 2004