ESR1, estrogen receptor 1, 2099

N. diseases: 1101; N. variants: 185
Disease: Breast Carcinoma ×
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.100 1.000 10 2007 2020
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: 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: 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: 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: rs2144025
rs2144025 		0.925 0.080 6 151986571 intron variant T/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2273206
rs2273206 		0.851 0.280 6 152061176 intron variant G/T snv 0.17 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
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: rs3003925
rs3003925 		0.925 0.080 6 151963323 intron variant G/A snv 0.80
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3020314
rs3020314 		0.790 0.280 6 151949537 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3778609
rs3778609 		0.925 0.080 6 151812052 intron variant C/T snv 0.13
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs523736
rs523736 		0.925 0.080 6 151802760 intron variant G/A snv 0.62
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
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: rs7766585
rs7766585 		0.925 0.080 6 152074901 intron variant T/A;G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
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: rs926778
rs926778 		0.925 0.080 6 152034647 intron variant C/A snv 0.40
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs9479118
rs9479118 		0.925 0.080 6 151797989 intron variant T/C snv 1.6E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2016 2016
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: 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: 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: 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: 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