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: rs2228480
rs2228480
ESR1
16 0.724 0.360 6 152098960 synonymous variant G/A snv 0.19 0.18 0.010 1.000 1 2008 2008
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2009 2009
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 2008 2008
dbSNP: rs2273207
rs2273207
ESR1
1 1.000 0.040 6 152061190 intron variant A/G snv 0.11 0.010 1.000 1 2008 2008
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 < 0.001 1 2013 2013