ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Breast Cancer, Familial ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1801132
rs1801132 		0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0346153
Disease: Breast Cancer, Familial
Breast Cancer, Familial 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2006 2006