ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Disease: Amyotrophic Lateral Sclerosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs695871
rs695871
Entrez Id: 6311;102723619
Gene Symbol: ATXN2;ATXN2-AS
ATXN2;ATXN2-AS
CUI: C0002736
Disease:
Amyotrophic Lateral Sclerosis 		0.010 GeneticVariation BEFREE Here we determined whether the expansions in ATXN2 associated with ALS were pure or interrupted CAG repeats, and defined single nucleotide polymorphisms (SNPs) rs695871 and rs695872 in exon 1 of the gene, to assess haplotype association. 21479228 2011