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: rs3020314
rs3020314
ESR1
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2009 2009
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: rs2144025
rs2144025
ESR1
4 0.925 0.080 6 151986571 intron variant T/A;C snv 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs7766585
rs7766585
ESR1
2 0.925 0.080 6 152074901 intron variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.060 0.833 6 2010 2016
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: 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: 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: 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: 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: rs1459132456
rs1459132456
ESR1 ; SYNE1
2 0.925 0.080 6 152125331 missense variant T/C snv 0.010 1.000 1 2016 2016