Source: ALL

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: 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: 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 9 2000 2013
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: 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: rs2881766
rs2881766
ESR1
0.882 0.120 6 151797984 intron variant T/G snv 0.35
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.030 1.000 3 2015 2019
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 3 2011 2014
dbSNP: rs10484919
rs10484919
ESR1
0.925 0.080 6 151653287 upstream gene variant C/T snv 0.16
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2011 2016
dbSNP: rs1062577
rs1062577
ESR1
0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2016 2017
dbSNP: rs12525163
rs12525163
ESR1
0.925 0.080 6 151719156 intron variant T/C snv 0.27
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs1459132456
rs1459132456
ESR1 ; SYNE1
0.925 0.080 6 152125331 missense variant T/C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs2144025
rs2144025
ESR1
0.925 0.080 6 151986571 intron variant T/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs2747648
rs2747648
ESR1
0.925 0.080 6 152101200 3 prime UTR variant C/T snv 0.98
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2012 2012
dbSNP: rs3003925
rs3003925
ESR1
0.925 0.080 6 151963323 intron variant G/A snv 0.80
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2008 2008
dbSNP: rs3020314
rs3020314
ESR1
0.790 0.280 6 151949537 intron variant C/G;T snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2009 2009
dbSNP: rs3778609
rs3778609
ESR1
0.925 0.080 6 151812052 intron variant C/T snv 0.13
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2019 2019
dbSNP: rs3798758
rs3798758
ESR1
0.925 0.080 6 152100719 3 prime UTR variant C/A snv 7.4E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2014 2014
dbSNP: rs523736
rs523736
ESR1
0.925 0.080 6 151802760 intron variant G/A snv 0.62
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs7766585
rs7766585
ESR1
0.925 0.080 6 152074901 intron variant T/A;G snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs926778
rs926778
ESR1
0.925 0.080 6 152034647 intron variant C/A snv 0.40
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2015 2015
dbSNP: rs9479118
rs9479118
ESR1
0.925 0.080 6 151797989 intron variant T/C snv 1.6E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2016 2016
dbSNP: rs1462893414
rs1462893414
ESR1
0.882 0.080 6 151944323 missense variant A/G snv 4.0E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2005 2007
dbSNP: rs762292600
rs762292600
ESR1
0.925 0.080 6 151944316 missense variant A/G snv 4.0E-06 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2016 2018
dbSNP: rs1455751791
rs1455751791
ESR1
0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2010 2010
dbSNP: rs200960801
rs200960801
ESR1
0.827 0.200 6 151944488 missense variant A/G snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2005 2005
dbSNP: rs1364963022
rs1364963022
ESR1
0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 < 0.001 1 2006 2006