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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.050 0.800 5 2012 2017
dbSNP: rs2077647
rs2077647
0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.020 1.000 2 2010 2015
dbSNP: rs2228480
rs2228480
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3798577
rs3798577
0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2015 2015
dbSNP: rs746432
rs746432
0.851 0.120 6 151808173 synonymous variant G/A;C snv 6.6E-02 7.0E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009