ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Mammary Neoplasms ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519827
rs1057519827
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. 24398047 2014
dbSNP: rs1057519827
rs1057519827
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510 2013
dbSNP: rs1057519827
rs1057519827
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512 2013