Gene: ESR1 ×
Source: ALL
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: rs1364963022
rs1364963022
ESR1
4 0.925 0.080 6 151944233 missense variant G/C snv 4.0E-06 0.010 < 0.001 1 2006 2006
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: rs9383938
rs9383938
ESR1
5 0.827 0.160 6 151666222 intron variant G/T snv 0.11 0.720 1.000 3 2011 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: rs2077647
rs2077647
ESR1
16 0.732 0.320 6 151807942 synonymous variant T/A;C snv 8.1E-06; 0.46 0.030 0.667 3 2010 2016
dbSNP: rs2144025
rs2144025
ESR1
4 0.925 0.080 6 151986571 intron variant T/A;C snv 0.010 1.000 1 2008 2008
dbSNP: rs1062577
rs1062577
ESR1
4 0.882 0.080 6 152102770 3 prime UTR variant T/A;G snv 0.020 1.000 2 2016 2017
dbSNP: rs7766585
rs7766585
ESR1
2 0.925 0.080 6 152074901 intron variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.100 1.000 11 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: 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: rs1459132456
rs1459132456
ESR1 ; SYNE1
2 0.925 0.080 6 152125331 missense variant T/C snv 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: rs760503206
rs760503206
ESR1
2 0.925 0.080 6 151807956 missense variant T/C snv 4.0E-06 0.010 1.000 1 2017 2017
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: rs2881766
rs2881766
ESR1
5 0.882 0.120 6 151797984 intron variant T/G snv 0.35 0.030 1.000 3 2015 2019