ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Carcinoma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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