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: rs139960913
rs139960913
ESR1
1 1.000 0.080 6 151807928 missense variant C/T snv 3.3E-03 3.1E-03 0.700 0
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: 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: 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: 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: 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: 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: 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: 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: rs7766585
rs7766585
ESR1
2 0.925 0.080 6 152074901 intron variant T/A;G snv 0.010 1.000 1 2011 2011
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: 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: rs1207112399
rs1207112399
ESR1
3 0.925 0.080 6 151842614 missense variant G/A snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1455751791
rs1455751791
ESR1
3 0.882 0.120 6 152011735 synonymous variant C/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs3798758
rs3798758
ESR1
3 0.925 0.080 6 152100719 3 prime UTR variant C/A snv 7.4E-02 0.010 1.000 1 2014 2014
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: rs767863538
rs767863538
ESR1
3 0.925 0.080 6 151808207 missense variant C/G;T snv 5.6E-06; 5.6E-06 0.010 1.000 1 2009 2009
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: 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: 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: 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: rs2144025
rs2144025
ESR1
4 0.925 0.080 6 151986571 intron variant T/A;C snv 0.010 1.000 1 2008 2008
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