rs1057519827, ESR1

N. diseases: 2
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Emergence of constitutively active estrogen receptor-α mutations in pretreated advanced estrogen receptor-positive breast cancer. 24398047 2014
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510 2013
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
0.700 GeneticVariation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE Prevalence of ESR1 E380Q mutation in tumor tissue and plasma from Japanese breast cancer patients. 29166868 2017