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: rs2881766
rs2881766
ESR1
0.882 0.120 6 151797984 intron variant T/G snv 0.35
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.030 1.000 3 2015 2019
dbSNP: rs1455751791
rs1455751791
ESR1
0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs746432
rs746432
ESR1
0.851 0.120 6 151808173 synonymous variant G/A;C snv 6.6E-02 7.0E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs747099645
rs747099645
ESR1
0.882 0.120 6 152061061 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs757200716
rs757200716
ESR1
0.851 0.160 6 151842617 missense variant G/A snv 8.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 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: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2005 2005
dbSNP: rs2273206
rs2273206
ESR1
0.851 0.280 6 152061176 intron variant G/T snv 0.17 0.22
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2015 2015
dbSNP: rs3020314
rs3020314
ESR1
0.790 0.280 6 151949537 intron variant C/G;T snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2009 2009
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: rs2077647
rs2077647
ESR1
0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2015 2016
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.100 1.000 10 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