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: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.020 1.000 2 2008 2009
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.020 1.000 2 2008 2009
dbSNP: rs149308960
rs149308960
ESR1
4 0.925 0.080 6 151842622 missense variant G/A;C;T snv 4.0E-06; 4.0E-06; 1.6E-03 0.010 1.000 1 2010 2010
dbSNP: rs1801132
rs1801132
ESR1
22 0.689 0.320 6 151944387 synonymous variant G/C snv 0.73 0.80 0.010 1.000 1 2010 2010
dbSNP: rs3020314
rs3020314
ESR1
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs79575945
rs79575945
ESR1
2 0.925 0.080 6 151837712 intron variant A/G snv 7.9E-02 0.010 1.000 1 2015 2015