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: rs2206949
rs2206949
ESR1
1 1.000 0.040 6 151716421 intron variant C/T snv 0.32 0.700 1.000 1 2017 2017
dbSNP: rs1159327
rs1159327
ESR1
1 1.000 0.040 6 151726887 intron variant C/T snv 0.32 0.010 1.000 1 2013 2013
dbSNP: rs2234693
rs2234693
ESR1
77 0.555 0.680 6 151842200 intron variant T/C snv 0.47 0.010 1.000 1 2011 2011
dbSNP: rs3020348
rs3020348
ESR1
2 1.000 0.040 6 151736779 intron variant C/A;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3798573
rs3798573
ESR1
1 1.000 0.040 6 152068227 intron variant A/G snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs9340773
rs9340773
ESR1
1 1.000 0.040 6 151808141 missense variant G/A;C snv 4.6E-03; 4.5E-06 0.010 1.000 1 2006 2006
dbSNP: rs9340799
rs9340799
ESR1
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2013 2013