ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: ESTROGEN RESISTANCE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397509428
rs397509428
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		0.800 GeneticVariation UNIPROT Familial Multiplicity of Estrogen Insensitivity Associated With a Loss-of-Function ESR1 Mutation. 27754803 2017
dbSNP: rs397509428
rs397509428
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		0.800 GeneticVariation UNIPROT Delayed puberty and estrogen resistance in a woman with estrogen receptor α variant. 23841731 2013
dbSNP: rs1131692059
rs1131692059
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1131692059
rs1131692059
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		0.800 GeneticVariation UNIPROT
dbSNP: rs1131692059
rs1131692059
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		A 0.800 GeneticVariation CLINVAR
dbSNP: rs397509428
rs397509428
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs104893956
rs104893956
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1562787582
rs1562787582
Entrez Id: 2099
Gene Symbol: ESR1
ESR1
CUI: C3809250
Disease:
ESTROGEN RESISTANCE 		A 0.700 SusceptibilityMutation CLINVAR