Gene: POLE ×
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: rs1057519943
rs1057519943
POLE
10 0.790 0.160 12 132676598 missense variant G/C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs146639652
rs146639652
POLE
5 0.827 0.080 12 132675752 missense variant G/A;C snv 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs483352909
rs483352909
POLE
11 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
dbSNP: rs780865223
rs780865223
POLE
2 0.925 0.080 12 132672754 missense variant T/C snv 1.2E-05 1.2E-04 0.010 1.000 1 2015 2015
dbSNP: rs980578884
rs980578884
POLE
2 0.925 0.080 12 132673217 missense variant C/T snv 1.4E-05 0.010 1.000 1 2017 2017