Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.760 1.000 6 2000 2013
dbSNP: rs9383938
rs9383938
ESR1
0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.720 1.000 2 2011 2014
dbSNP: rs9383938
rs9383938
ESR1
0.827 0.160 6 151666222 intron variant G/T snv 0.11
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.720 1.000 2 2011 2014
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.100 1.000 11 2007 2020
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 1.000 10 2007 2020
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.080 1.000 8 2004 2010
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.070 0.857 7 2007 2020
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.070 0.857 7 2007 2020
dbSNP: rs1801132
rs1801132
ESR1
0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 1.000 6 2007 2015
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 0.833 6 2010 2016
dbSNP: rs3798577
rs3798577
ESR1
0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.060 1.000 6 2009 2018
dbSNP: rs3798577
rs3798577
ESR1
0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.060 1.000 6 2009 2018
dbSNP: rs1801132
rs1801132
ESR1
0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 1.000 5 2007 2015
dbSNP: rs2228480
rs2228480
ESR1
0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.050 0.800 5 2010 2016
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.050 0.800 5 2012 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.050 0.800 5 2012 2017
dbSNP: rs9340799
rs9340799
ESR1
0.583 0.680 6 151842246 intron variant A/G snv 0.32
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.050 0.800 5 2012 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		0.040 1.000 4 2008 2014
dbSNP: rs796065354
rs796065354
ESR1
0.882 0.080 6 151944320 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.040 1.000 4 2005 2009
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.030 1.000 3 2005 2007
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2005 2007
dbSNP: rs2077647
rs2077647
ESR1
0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 0.667 3 2010 2016
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2011 2017
dbSNP: rs2234693
rs2234693
ESR1
0.555 0.680 6 151842200 intron variant T/C snv 0.47
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		0.030 0.667 3 2005 2013