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: rs9383938
rs9383938
0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.720 1.000 3 2011 2014
dbSNP: rs2747652
rs2747652
1.000 0.080 6 152115881 intron variant T/C snv 0.53
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs6904031
rs6904031
1.000 0.080 6 151734843 intron variant A/T snv 9.7E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs78796841
rs78796841
1.000 0.080 6 151859461 intron variant A/G snv 1.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs2234693
rs2234693
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.100 1.000 10 2007 2020
dbSNP: rs796065354
rs796065354
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.080 1.000 8 2004 2010
dbSNP: rs9340799
rs9340799
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.070 0.857 7 2007 2020
dbSNP: rs3798577
rs3798577
0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.060 1.000 6 2009 2018
dbSNP: rs1801132
rs1801132
0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.050 1.000 5 2007 2015
dbSNP: rs2228480
rs2228480
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.050 0.800 5 2010 2016
dbSNP: rs1462893414
rs1462893414
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2005 2007
dbSNP: rs2881766
rs2881766
0.882 0.120 6 151797984 intron variant T/G snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2015 2019
dbSNP: rs10484919
rs10484919
0.925 0.080 6 151653287 upstream gene variant C/T snv 0.16
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2016
dbSNP: rs1062577
rs1062577
0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2017
dbSNP: rs2077647
rs2077647
0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2015 2016
dbSNP: rs757200716
rs757200716
0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2011 2014
dbSNP: rs762292600
rs762292600
0.925 0.080 6 151944316 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2016 2018
dbSNP: rs1207112399
rs1207112399
0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12525163
rs12525163
0.925 0.080 6 151719156 intron variant T/C snv 0.27
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1364963022
rs1364963022
0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006
dbSNP: rs1455751791
rs1455751791
0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1459132456
rs1459132456
0.925 0.080 6 152125331 missense variant T/C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
dbSNP: rs188957694
rs188957694
0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2005 2005
dbSNP: rs200075329
rs200075329
0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs200282497
rs200282497
0.925 0.080 6 151944239 missense variant G/C snv 3.6E-05 3.5E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2006 2006