ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519716
rs1057519716
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease:
Mammary Neoplasms
A 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512 2013