ATXN2, ataxin 2, 6311

N. diseases: 341; N. variants: 50
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0678222
Disease:
Breast Carcinoma
C 0.710 GeneticVariation GWASCAT Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations. 27197191 2016
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0678222
Disease:
Breast Carcinoma
0.710 GeneticVariation BEFREE We identified three pleiotropic loci within the inflammation pathway, including one novel locus in Ch12q24 encoding SH2B3 (rs3184504), which reached GWAS significance with a P value of 1.78 x 10(-8), and it showed an association with lung cancer (P = 2.01 x 10(-6)), colorectal cancer (GECCO P = 6.72x10(-6); CORECT P = 3.32x10(-5)), and breast cancer (P = .009). 26319099 2015