Source: CURATED

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: rs1131692059
rs1131692059
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 GeneticVariation UNIPROT

dbSNP: rs1999805
rs1999805
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 GeneticVariation GWASDB Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982

2009
dbSNP: rs1999805
rs1999805
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 GeneticVariation GWASDB New sequence variants associated with bone mineral density. 19079262

2009
dbSNP: rs1999805
rs1999805
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		C 0.800 GeneticVariation GWASCAT Multiple genetic loci for bone mineral density and fractures. 18445777

2008
dbSNP: rs1999805
rs1999805
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		C 0.800 GeneticVariation GWASDB Multiple genetic loci for bone mineral density and fractures. 18445777

2008
dbSNP: rs2504063
rs2504063
ESR1 ; LOC107986529
CUI: C0005938
Disease: Bone Density
Bone Density 		A 0.800 GeneticVariation GWASCAT Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982

2009
dbSNP: rs2504063
rs2504063
ESR1 ; LOC107986529
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 GeneticVariation GWASDB New sequence variants associated with bone mineral density. 19079262

2009
dbSNP: rs2504063
rs2504063
ESR1 ; LOC107986529
CUI: C0005938
Disease: Bone Density
Bone Density 		A 0.800 GeneticVariation GWASDB Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982

2009
dbSNP: rs2941740
rs2941740
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		G 0.800 GeneticVariation GWASDB Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982

2009
dbSNP: rs2941740
rs2941740
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		G 0.800 GeneticVariation GWASCAT Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982

2009
dbSNP: rs3020333
rs3020333
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		A 0.800 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378

2018
dbSNP: rs3020333
rs3020333
ESR1
CUI: C0005938
Disease: Bone Density
Bone Density 		0.800 GeneticVariation GWASDB Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. 19801982

2009
dbSNP: rs397509428
rs397509428
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 GeneticVariation UNIPROT Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation. 27754803

2017
dbSNP: rs397509428
rs397509428
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		0.800 GeneticVariation UNIPROT Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. 23841731

2013
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: rs9383938
rs9383938
ESR1
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		T 0.720 GeneticVariation GWASCAT A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. 22976474

2012
dbSNP: rs9383938
rs9383938
ESR1
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		T 0.720 GeneticVariation GWASDB A meta-analysis of genome-wide association studies of breast cancer identifies two novel susceptibility loci at 6q14 and 20q11. 22976474

2012
dbSNP: rs104893956
rs104893956
ESR1
CUI: C3809250
Disease: ESTROGEN RESISTANCE
ESTROGEN RESISTANCE 		T 0.700 CausalMutation CLINVAR