Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692059
rs1131692059
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		A 0.800 GeneticVariation CLINVAR

dbSNP: rs1131692059
rs1131692059
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		A 0.800 CausalMutation CLINVAR

dbSNP: rs397509428
rs397509428
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		T 0.800 CausalMutation CLINVAR

dbSNP: rs796065354
rs796065354
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.760 SusceptibilityMutation CLINVAR A population-based case-control study was conducted in 150 newly diagnosed invasive breast cancer and 147 healthy control individuals controls to screen for presence of the ER-α A908G mutation by using single-strand conformation polymorphism (SSCP) analysis and 33Pcycle DNA sequencing. 23236557

2013
dbSNP: rs796065354
rs796065354
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.760 SusceptibilityMutation CLINVAR There was also the suggestion that longer duration of oral contraceptive (OC) use (OR = 3.73, 95% CI = 1.16 to 12.03; Ptrend = 0.02 for use of more than 10 years) and recent use of OCs (OR = 3.63, 95% CI = 0.80 to 16.45; Ptrend = 0.10 for use within 10 years) were associated with ESR1 A908G mutation-positive breast cancer; however, ORs for comparison of the two case subgroups were not statistically significant. 17553133

2007
dbSNP: rs796065354
rs796065354
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.760 SusceptibilityMutation CLINVAR Here, we have optimized the detection of a somatic mutation, an A908G transition of ERalpha, and examined its association with clinical and biological features of invasive breast cancer. 17545528

2007
dbSNP: rs796065354
rs796065354
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.760 SusceptibilityMutation CLINVAR This population-based study, the largest so far to screen for the ER-alpha A908G mutation in breast cancer, confirms the presence of the mutant in invasive breast tumors. 16280033

2005
dbSNP: rs796065354
rs796065354
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		G 0.760 SusceptibilityMutation CLINVAR A hypersensitive estrogen receptor-alpha mutation in premalignant breast lesions. 10945602

2000
dbSNP: rs104893956
rs104893956
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		T 0.700 CausalMutation CLINVAR

dbSNP: rs1057519714
rs1057519714
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519715
rs1057519715
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519716
rs1057519716
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		A 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519717
rs1057519717
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013
dbSNP: rs1057519717
rs1057519717
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs1057519827
rs1057519827
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
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
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 24185510

2013
dbSNP: rs1057519827
rs1057519827
ESR1
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		C 0.700 GeneticVariation CLINVAR ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 24185512

2013
dbSNP: rs121913043
rs121913043
ESR1
CUI: C4016037
Disease: ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE
ESTROGEN RECEPTOR MUTANT, TEMPERATURE-SENSITIVE 		GC 0.700 CausalMutation CLINVAR

dbSNP: rs1562787582
rs1562787582
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		A 0.700 SusceptibilityMutation CLINVAR