rs1256030, ESR2

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Corpuscular Hemoglobin Concentration Mean
0.700 GeneticVariation GWASDB Seventy-five genetic loci influencing the human red blood cell. 23222517 2012
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
0.010 GeneticVariation BEFREE ESR2 rs1256030 T allele may be a significant risk factor for the development of PBC. 26608979 2015
Ovarian Carcinoma
CUI: C0029925
Disease: Ovarian Carcinoma
0.010 GeneticVariation BEFREE Compared to homozygous common allele carriers, homozygous carriers of variant alleles for rs1271572 [odds ratio (OR) = 1.79, 95% confidence interval (CI):1.15-2.79, p global = 0.01] and rs1256030 [OR = 1.67, CI: 1.08-2.59, p global = 0.04], and women with haplotypes, including variant alleles of rs1271572, rs1256030, and rs1256031 SNPs [OR = 1.75, CI: 1.17-2.63, p global = 0.007], had significantly increased risk of ovarian carcinoma. 18704709 2009
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.010 GeneticVariation BEFREE Compared to homozygous common allele carriers, homozygous carriers of variant alleles for rs1271572 [odds ratio (OR) = 1.79, 95% confidence interval (CI):1.15-2.79, p global = 0.01] and rs1256030 [OR = 1.67, CI: 1.08-2.59, p global = 0.04], and women with haplotypes, including variant alleles of rs1271572, rs1256030, and rs1256031 SNPs [OR = 1.75, CI: 1.17-2.63, p global = 0.007], had significantly increased risk of ovarian carcinoma. 18704709 2009
Carcinoma, Ovarian Epithelial
CUI: C4721610
Disease: Carcinoma, Ovarian Epithelial
0.010 GeneticVariation BEFREE Compared to homozygous common allele carriers, homozygous carriers of variant alleles for rs1271572 [odds ratio (OR) = 1.79, 95% confidence interval (CI):1.15-2.79, p global = 0.01] and rs1256030 [OR = 1.67, CI: 1.08-2.59, p global = 0.04], and women with haplotypes, including variant alleles of rs1271572, rs1256030, and rs1256031 SNPs [OR = 1.75, CI: 1.17-2.63, p global = 0.007], had significantly increased risk of ovarian carcinoma. 18704709 2009
Impaired cognition
CUI: C0338656
Disease: Impaired cognition
0.010 GeneticVariation BEFREE Among women, after multivariate adjustment, two of the ESR1 SNPs (rs8179176, rs9340799) and two of the ESR2 SNPs (rs1256065, rs1256030) were associated with likelihood of developing cognitive impairment, although the association for rs8179176 was of trend level significance. 17889406 2009