ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Uterine Fibroids ×
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: rs1182554992
rs1182554992 		6 151880688 missense variant A/G snv 8.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 < 0.001 1 2006 2006
dbSNP: rs200960801
rs200960801 		0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.010 1.000 1 2009 2009