ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Breast Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9383938
rs9383938
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease:
Breast Carcinoma 		0.720 GeneticVariation BEFREE Two variants, 6q25.1-rs9383938 and TXNRD2-rs8141691, were statistically significantly associated with percent MD (P = 0.019 and 0.03, respectively), with the 6q25.1-rs9383938 association being consistent with the SNP effect on breast cancer risk. 25002657 2014
dbSNP: rs9383938
rs9383938
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease:
Breast Carcinoma 		T 0.720 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. 22976474 2012
dbSNP: rs9383938
rs9383938
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0678222
Disease:
Breast Carcinoma 		0.720 GeneticVariation BEFREE We also identified two variants (rs3734805 and rs9383938) mapping to 6q25.1 estrogen receptor 1 (ESR1), which were associated with breast cancer in subjects of northern European ancestry (rs3734805: OR = 1.19, 95% CI = 1.11 to 1.27, P = 1.35 × 10(-7); rs9383938: OR = 1.18, 95% CI = 1.11 to 1.26, P = 1.41 × 10(-7)). 21263130 2011