ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
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: rs2234693
rs2234693
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.030 0.667 3 2005 2013
dbSNP: rs9340799
rs9340799
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.020 1.000 2 2005 2013