Gene: ESR1 ×
Source: BEFREE ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2747648
rs2747648
ESR1
2 0.925 0.080 6 152101200 3 prime UTR variant C/T snv 0.98 0.010 1.000 1 2012 2012
dbSNP: rs3003925
rs3003925
ESR1
2 0.925 0.080 6 151963323 intron variant G/A snv 0.80 0.010 1.000 1 2008 2008
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.050 1.000 5 2007 2015
dbSNP: rs523736
rs523736
ESR1
2 0.925 0.080 6 151802760 intron variant G/A snv 0.62 0.010 1.000 1 2016 2016
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.100 1.000 10 2007 2020
dbSNP: rs3798577
rs3798577
ESR1
16 0.742 0.320 6 152099995 3 prime UTR variant T/C snv 0.45 0.060 1.000 6 2009 2018
dbSNP: rs926778
rs926778
ESR1
2 0.925 0.080 6 152034647 intron variant C/A snv 0.40 0.010 1.000 1 2015 2015
dbSNP: rs2881766
rs2881766
ESR1
5 0.882 0.120 6 151797984 intron variant T/G snv 0.35 0.030 1.000 3 2015 2019
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.070 0.857 7 2007 2020
dbSNP: rs12525163
rs12525163
ESR1
2 0.925 0.080 6 151719156 intron variant T/C snv 0.27 0.010 1.000 1 2014 2014
dbSNP: rs2273206
rs2273206
ESR1
5 0.851 0.280 6 152061176 intron variant G/T snv 0.17 0.22 0.010 1.000 1 2015 2015
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.050 0.800 5 2010 2016
dbSNP: rs10484919
rs10484919
ESR1
2 0.925 0.080 6 151653287 upstream gene variant C/T snv 0.16 0.020 1.000 2 2011 2016
dbSNP: rs3778609
rs3778609
ESR1
2 0.925 0.080 6 151812052 intron variant C/T snv 0.13 0.010 1.000 1 2019 2019
dbSNP: rs9383938
rs9383938
ESR1
5 0.827 0.160 6 151666222 intron variant G/T snv 0.11 0.720 1.000 2 2011 2014
dbSNP: rs3798758
rs3798758
ESR1
2 0.925 0.080 6 152100719 3 prime UTR variant C/A snv 7.4E-02 0.010 1.000 1 2014 2014
dbSNP: rs746432
rs746432
ESR1
4 0.851 0.120 6 151808173 synonymous variant G/A;C snv 6.6E-02 7.0E-02 0.010 1.000 1 2007 2007
dbSNP: rs9479118
rs9479118
ESR1
2 0.925 0.080 6 151797989 intron variant T/C snv 1.6E-02 0.010 1.000 1 2016 2016
dbSNP: rs200075329
rs200075329
ESR1
4 0.925 0.080 6 151808264 missense variant T/C snv 4.4E-03 4.3E-03 0.010 1.000 1 2019 2019
dbSNP: rs201145204
rs201145204
ESR1
2 0.925 0.080 6 151808318 missense variant C/T snv 2.4E-04 1.0E-03 0.010 1.000 1 2007 2007
dbSNP: rs188957694
rs188957694
ESR1
6 0.882 0.080 6 151944218 missense variant G/A;C snv 4.0E-05 4.9E-05 0.010 1.000 1 2005 2005
dbSNP: rs200282497
rs200282497
ESR1
4 0.925 0.080 6 151944239 missense variant G/C snv 3.6E-05 3.5E-05 0.010 < 0.001 1 2006 2006
dbSNP: rs747099645
rs747099645
ESR1
3 0.882 0.120 6 152061061 missense variant C/T snv 1.6E-05 2.8E-05 0.010 1.000 1 2012 2012
dbSNP: rs761843408
rs761843408
ESR1 ; SYNE1
2 0.925 0.080 6 152125285 synonymous variant A/G snv 3.4E-05 2.8E-05 0.010 1.000 1 2009 2009
dbSNP: rs762292600
rs762292600
ESR1
7 0.925 0.080 6 151944316 missense variant A/G snv 4.0E-06 1.4E-05 0.020 1.000 2 2016 2018