ESR2, estrogen receptor 2, 2100

N. diseases: 528; N. variants: 56
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: rs4986938
rs4986938
0.641 0.600 14 64233098 3 prime UTR variant C/T snv 0.31 0.33
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.020 0.500 2 2008 2014
dbSNP: rs1256049
rs1256049
0.645 0.560 14 64257333 synonymous variant C/T snv 6.7E-02 6.3E-02
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.010 < 0.001 1 2014 2014
dbSNP: rs17179740
rs17179740
1.000 0.040 14 64290033 intron variant G/A snv 0.44
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2013 2013
dbSNP: rs751676149
rs751676149
1.000 0.040 14 64233228 missense variant C/T snv 2.8E-05 2.1E-05
CUI: C0014175
Disease: Endometriosis
Endometriosis
Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011