ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs766001707
rs766001707
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0206245
Disease:
Amyloid Neuropathies, Familial
0.010 GeneticVariation BEFREE Large normal alleles of ATXN2 decrease age at onset in transthyretin familial amyloid polyneuropathy Val30Met patients. 30615214 2019