SH2B3, SH2B adaptor protein 3, 10019

N. diseases: 212; N. variants: 21
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs148636776
rs148636776
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0027051
Disease:
Myocardial Infarction
A 0.700 CausalMutation CLINVAR
dbSNP: rs3184504
rs3184504
Entrez Id: 6311;10019
Gene Symbol: ATXN2;SH2B3
ATXN2;SH2B3
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE The R262W polymorphism is associated with risk of CHD or MI in Europeans, but not in Asians. 30508957 2018