Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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