ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs36215895
rs36215895
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
T 0.800 CausalMutation CLINVAR
dbSNP: rs745516407
rs745516407
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
T 0.700 GeneticVariation CLINVAR
dbSNP: rs1298806501
rs1298806501
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0003125
Disease:
Anorexia Nervosa
0.010 GeneticVariation BEFREE Both a) and b) were located within the flexible hinge region between DNA and ligand binding domain. c) For a 1082G-->A polymorphism we found suggestive evidence for an association between the more common 1082G-allele and anorexia nervosa (nominal p=0.04). d) One silent mutation (1421T-->C) was found solely in two obese probands. e) A common variant is located in the 3' nontranslated region at position 1730(A-->G). 9851804 1998
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE After adjusting for potential confounders, we observed no association between ESR2 gene polymorphisms and endometrial cancer risk [rs1256049 (OR = 1.2; 95%CI: 0.7-2.3), rs1271572 (OR = 0.8; 95%CI: 0.5-1.1) and CA repeat (22 repeat allele versus > or = 22 repeat allele, OR = 1.1; 95%CI: 0.7-1.7)]. 15280642 2004
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE After adjusting for potential confounders, we observed no association between ESR2 gene polymorphisms and endometrial cancer risk [rs1256049 (OR = 1.2; 95%CI: 0.7-2.3), rs1271572 (OR = 0.8; 95%CI: 0.5-1.1) and CA repeat (22 repeat allele versus > or = 22 repeat allele, OR = 1.1; 95%CI: 0.7-1.7)]. 15280642 2004
dbSNP: rs1271572
rs1271572
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.010 GeneticVariation BEFREE After adjusting for potential confounders, we observed no association between ESR2 gene polymorphisms and endometrial cancer risk [rs1256049 (OR = 1.2; 95%CI: 0.7-2.3), rs1271572 (OR = 0.8; 95%CI: 0.5-1.1) and CA repeat (22 repeat allele versus > or = 22 repeat allele, OR = 1.1; 95%CI: 0.7-1.7)]. 15280642 2004
dbSNP: rs1271572
rs1271572
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0476089
Disease:
Endometrial Carcinoma
0.010 GeneticVariation BEFREE After adjusting for potential confounders, we observed no association between ESR2 gene polymorphisms and endometrial cancer risk [rs1256049 (OR = 1.2; 95%CI: 0.7-2.3), rs1271572 (OR = 0.8; 95%CI: 0.5-1.1) and CA repeat (22 repeat allele versus > or = 22 repeat allele, OR = 1.1; 95%CI: 0.7-1.7)]. 15280642 2004
dbSNP: rs928554
rs928554
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE However, after dividing the groups into subjects with and without a family history of hypertension, the allelic distribution of one of the SNPs (rs928554) revealed a positive association. 15894829 2004
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.040 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.040 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs4986938
rs4986938
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.030 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs4986938
rs4986938
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.030 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs1256031
rs1256031
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In women, however, two polymorphisms, ESR2 rs1256031 and ESR2 rs1256059, in linkage disequilibrium with one another, were associated with LVM and LVWT (P = .0007 to .03); the association was most pronounced in those women with hypertension (P = .0006 to .01). 16280269 2005
dbSNP: rs1256059
rs1256059
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE In women, however, two polymorphisms, ESR2 rs1256031 and ESR2 rs1256059, in linkage disequilibrium with one another, were associated with LVM and LVWT (P = .0007 to .03); the association was most pronounced in those women with hypertension (P = .0006 to .01). 16280269 2005
dbSNP: rs928554
rs928554
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs928554
rs928554
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE We investigated three common ESR2 polymorphisms, rs1256049 (G1082A), rs4986938 (G1730A) and rs928554 (Cx+56 A-->G) for association to breast cancer risk. 16261413 2005
dbSNP: rs36215895
rs36215895
Entrez Id: 2100;23224
Gene Symbol: ESR2;SYNE2
ESR2;SYNE2
CUI: C2751805
Disease:
EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT
0.800 GeneticVariation UNIPROT Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity. 17761684 2007
dbSNP: rs1271572
rs1271572
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0027051
Disease:
Myocardial Infarction
0.020 GeneticVariation BEFREE In conditional logistic multivariate regression, the rs1271572 variant was associated with increased odds of CVD [odds ratio (OR) = 1.49, 95% CI: 1.10-2.01] and MI (OR = 1.46, 95% CI: 0.96-2.23), whereas the rs1256049 variant was associated with decreased odds of CVD (OR = 0.37, 95% CI: 0.17-0.79) and MI (OR = 0.25, 95% CI: 0.09-0.73) in women. 17702854 2007
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0948008
Disease:
Ischemic stroke
0.010 GeneticVariation BEFREE Women, but not men, who developed CVD or MI, but not ischemic stroke, were more likely to have the rs1271572 polymorphism variant T allele (P = 0.05 and 0.02) and less likely to have the rs1256049 polymorphism variant A allele (P = 0.003 and 0.004). 17702854 2007
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C2751898
Disease:
Ventricular Fibrillation, Paroxysmal Familial, 1
0.010 GeneticVariation BEFREE ESR1 PvuII T/C (rs2234693) and XbaI A/G (rs9340799) single-nucleotide polymorphisms (SNPs) and (TA)n microsatellite polymorphism, as well as ESR2 RsaI G/A (rs1256049) SNP and (CA)n microsatellite polymorphism were genotyped in 159 IVF patients. 17540666 2007
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE In conditional logistic multivariate regression, the rs1271572 variant was associated with increased odds of CVD [odds ratio (OR) = 1.49, 95% CI: 1.10-2.01] and MI (OR = 1.46, 95% CI: 0.96-2.23), whereas the rs1256049 variant was associated with decreased odds of CVD (OR = 0.37, 95% CI: 0.17-0.79) and MI (OR = 0.25, 95% CI: 0.09-0.73) in women. 17702854 2007
dbSNP: rs1256049
rs1256049
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE In conditional logistic multivariate regression, the rs1271572 variant was associated with increased odds of CVD [odds ratio (OR) = 1.49, 95% CI: 1.10-2.01] and MI (OR = 1.46, 95% CI: 0.96-2.23), whereas the rs1256049 variant was associated with decreased odds of CVD (OR = 0.37, 95% CI: 0.17-0.79) and MI (OR = 0.25, 95% CI: 0.09-0.73) in women. 17702854 2007
dbSNP: rs1256062
rs1256062
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C1691215
Disease:
Penile hypospadias
0.010 GeneticVariation BEFREE Four haplotype-tagging single nucleotide polymorphisms (rs2987983, rs1887994, rs1256040, and rs1256062), the (CA)n polymorphism, and two additional promoter single nucleotide polymorphisms (rs10483774 and rs1271572), mapping to a transcription factor binding region, were typed and analyzed in a Swedish cohort of 354 boys with nonsyndromic hypospadias and 380 healthy controls. 17579196 2007
dbSNP: rs1256062
rs1256062
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0848558
Disease:
Hypospadias
0.010 GeneticVariation BEFREE Four haplotype-tagging single nucleotide polymorphisms (rs2987983, rs1887994, rs1256040, and rs1256062), the (CA)n polymorphism, and two additional promoter single nucleotide polymorphisms (rs10483774 and rs1271572), mapping to a transcription factor binding region, were typed and analyzed in a Swedish cohort of 354 boys with nonsyndromic hypospadias and 380 healthy controls. 17579196 2007
dbSNP: rs1271572
rs1271572
Entrez Id: 2100
Gene Symbol: ESR2
ESR2
CUI: C0007222
Disease:
Cardiovascular Diseases
0.010 GeneticVariation BEFREE In conditional logistic multivariate regression, the rs1271572 variant was associated with increased odds of CVD [odds ratio (OR) = 1.49, 95% CI: 1.10-2.01] and MI (OR = 1.46, 95% CI: 0.96-2.23), whereas the rs1256049 variant was associated with decreased odds of CVD (OR = 0.37, 95% CI: 0.17-0.79) and MI (OR = 0.25, 95% CI: 0.09-0.73) in women. 17702854 2007