GPER1, G protein-coupled estrogen receptor 1, 2852

N. diseases: 180; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs3802141
rs3802141
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0341858
Disease:
Endometriosis of uterus
0.010 GeneticVariation BEFREE The rs3802141 CT genotype was more common in the control group (p = .02), and the rs4266553 CC genotype was more common in the adenomyosis group (p = .02). 30626229 2019
dbSNP: rs4266553
rs4266553
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0341858
Disease:
Endometriosis of uterus
0.010 GeneticVariation BEFREE The C allele of the SNP rs4266553 was more common in the adenomyosis group (p = .02). 30626229 2019
dbSNP: rs11544331
rs11544331
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Surveying a small set of CAFs from breast cancer</span> biopsies, we found that a relatively common single nucleotide polymorphism, which results in the expression of a GPER variant with the amino acid substitution P16L, is associated with the nuclear localization of GPER. 28596490 2017
dbSNP: rs11544331
rs11544331
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Surveying a small set of CAFs from breast cancer</span> biopsies, we found that a relatively common single nucleotide polymorphism, which results in the expression of a GPER variant with the amino acid substitution P16L, is associated with the nuclear localization of GPER. 28596490 2017
dbSNP: rs3808350
rs3808350
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0023267
Disease:
Fibroid Tumor
0.010 GeneticVariation BEFREE The G allele of rs3808351 and the GG genotype of both the rs3808350 and rs3808351 polymorphisms and the GGC haplotype increased the risk of developing leiomyoma. 26773178 2016
dbSNP: rs3808350
rs3808350
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0042133
Disease:
Uterine Fibroids
0.010 GeneticVariation BEFREE The G allele of rs3808351 and the GG genotype of both the rs3808350 and rs3808351 polymorphisms and the GGC haplotype increased the risk of developing leiomyoma. 26773178 2016
dbSNP: rs3808351
rs3808351
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0349528
Disease:
Solitary leiomyoma
0.010 GeneticVariation BEFREE However, the GG genotype of the GPR30 rs3808351 polymorphism and G allele of the GPR30 rs3808351 polymorphism were associated with the risk of having a single leiomyoma. 26773178 2016
dbSNP: rs3808351
rs3808351
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0042133
Disease:
Uterine Fibroids
0.010 GeneticVariation BEFREE The G allele of rs3808351 and the GG genotype of both the rs3808350 and rs3808351 polymorphisms and the GGC haplotype increased the risk of developing leiomyoma. 26773178 2016
dbSNP: rs3808351
rs3808351
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0023267
Disease:
Fibroid Tumor
0.010 GeneticVariation BEFREE The G allele of rs3808351 and the GG genotype of both the rs3808350 and rs3808351 polymorphisms and the GGC haplotype increased the risk of developing leiomyoma. 26773178 2016
dbSNP: rs3808350
rs3808350
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0018418
Disease:
Gynecomastia
0.010 GeneticVariation BEFREE Our results suggest that increased E2 levels, the G allele of rs3808350 and the A allele of rs3808351 might explain why certain adolescents are affected by gynecomastia. 25531203 2015
dbSNP: rs3808351
rs3808351
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0018418
Disease:
Gynecomastia
0.010 GeneticVariation BEFREE Our results suggest that increased E2 levels, the G allele of rs3808350 and the A allele of rs3808351 might explain why certain adolescents are affected by gynecomastia. 25531203 2015
dbSNP: rs11544331
rs11544331
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The common genetic variant, GPER P16L, is hypofunctional and female carriers of this allele have increased blood pressure. 25039431 2014
dbSNP: rs3808350
rs3808350
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0036631
Disease:
Seminoma
0.010 GeneticVariation BEFREE Compared to control population, loss of homozygous ancestral genotype GG in two polymorphisms located in the promoter region of GPER (rs3808350 and rs3808351) was more frequent in seminomas but not in non-seminomas (respectively, OR = 1.960 (1.172-3.277) and 7.000 (2.747-17.840); p < 0.01). 24451139 2014
dbSNP: rs3808351
rs3808351
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0036631
Disease:
Seminoma
0.010 GeneticVariation BEFREE Compared to control population, loss of homozygous ancestral genotype GG in two polymorphisms located in the promoter region of GPER (rs3808350 and rs3808351) was more frequent in seminomas but not in non-seminomas (respectively, OR = 1.960 (1.172-3.277) and 7.000 (2.747-17.840); p < 0.01). 24451139 2014
dbSNP: rs10269151
rs10269151
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE However, heterozygotes in three SNPs of the gene (rs3808351, rs10269151 and rs426655s3) were related significantly with the curve severity in AIS patients (P = 0.004, 0.048 and 0.028, respectively). 22002330 2012
dbSNP: rs3808351
rs3808351
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0039585
Disease:
Androgen-Insensitivity Syndrome
0.010 GeneticVariation BEFREE However, heterozygotes in three SNPs of the gene (rs3808351, rs10269151 and rs426655s3) were related significantly with the curve severity in AIS patients (P = 0.004, 0.048 and 0.028, respectively). 22002330 2012
dbSNP: rs11544331
rs11544331
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Both homozygous GG genotype of promoter SNP rs3808350 and T allele of missense SNP rs11544331 were inversely associated with PR-negativity, suggesting that they might exert protective effects regarding development of PR-negative cancer. 19744559 2010
dbSNP: rs11544331
rs11544331
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Both homozygous GG genotype of promoter SNP rs3808350 and T allele of missense SNP rs11544331 were inversely associated with PR-negativity, suggesting that they might exert protective effects regarding development of PR-negative cancer. 19744559 2010
dbSNP: rs3808350
rs3808350
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Both homozygous GG genotype of promoter SNP rs3808350 and T allele of missense SNP rs11544331 were inversely associated with PR-negativity, suggesting that they might exert protective effects regarding development of PR-negative cancer. 19744559 2010
dbSNP: rs3808350
rs3808350
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Both homozygous GG genotype of promoter SNP rs3808350 and T allele of missense SNP rs11544331 were inversely associated with PR-negativity, suggesting that they might exert protective effects regarding development of PR-negative cancer. 19744559 2010
dbSNP: rs3808351
rs3808351
Entrez Id: 2852;84310
Gene Symbol: GPER1;C7orf50
GPER1;C7orf50
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The A allele of SNP rs3808351 was significantly less frequent in patients with large or G3 tumors, T allele of SNP rs11544331 less frequently occurred in patients with positive nodal status, suggesting that both SNPs might exert protective effects regarding aggressive breast cancer entities. 19744559 2010