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: rs2077647
rs2077647
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE The present study suggests that rs2077647 polymorphism may be a risk factor for prostate cancer especially in patients diagnosed before the age of 60, while rs3798577 polymorphism could probably serve rather as promoting factor in combination with other polymorphisms in estrogen receptor alpha contributing preferably to development of high-grade carcinomas. 25828708 2015
dbSNP: rs3798577
rs3798577
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE The present study suggests that rs2077647 polymorphism may be a risk factor for prostate cancer especially in patients diagnosed before the age of 60, while rs3798577 polymorphism could probably serve rather as promoting factor in combination with other polymorphisms in estrogen receptor alpha contributing preferably to development of high-grade carcinomas. 25828708 2015
dbSNP: rs188957694
rs188957694
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE The majority of spontaneous and DMBA-induced carcinomas and sarcomas from p53(R270H/+)WAPCre mice is estrogen receptor alpha positive, and expression profiles of genes also implicated in human breast cancer appear similarly altered. 16166291 2005
dbSNP: rs796065354
rs796065354
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C0007097
Disease:
Carcinoma
0.010 GeneticVariation BEFREE The fact that the mutation was not found leads us to believe that this mutation is absent from most cells in invasive carcinomas and furthermore that the major expression product of the ER-alpha gene in cancers does not contain the K303R mutation. 15642159 2005