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: rs587779340
rs587779340
PMS2
7 0.882 0.200 7 6003794 splice acceptor variant T/A;C;G snv 4.1E-06 0.700 0
dbSNP: rs876661024
rs876661024
PTEN
11 0.776 0.200 10 87957852 splice acceptor variant G/A;C;T snv 0.700 0
dbSNP: rs1052133
rs1052133
OGG1 ; CAMK1
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.010 < 0.001 1 2013 2013
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.010 1.000 1 2005 2005
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.010 1.000 1 2005 2005
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2019 2019
dbSNP: rs4975605
rs4975605
TERT
2 1.000 0.080 5 1275413 intron variant C/A snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs8124792
rs8124792
CYP24A1
6 0.827 0.120 20 54150268 downstream gene variant G/A snv 7.8E-02 0.010 1.000 1 2017 2017