ATXN3, ataxin 3, 4287

N. diseases: 207; N. variants: 12
Disease: Machado-Joseph Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56268847
rs56268847
Entrez Id: 4287
Gene Symbol: ATXN3
ATXN3
CUI: C0024408
Disease:
Machado-Joseph Disease 		0.010 GeneticVariation BEFREE We found the "Joseph-derived" lineage (Joseph lineage with a G variant in rs56268847) to be very common among Chinese MJD patients. 30842792 2018