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: rs1042522
rs1042522
TP53
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2006 2006
dbSNP: rs1042821
rs1042821
MSH6
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.010 1.000 1 2006 2006
dbSNP: rs104894194
rs104894194
AIP
4 0.925 11 67483198 stop gained C/T snv 2.8E-05 2.1E-05 0.010 1.000 1 2007 2007
dbSNP: rs10505476
rs10505476
POU5F1B ; CASC8 ; PCAT1
3 8 127395871 intron variant C/T snv 0.38 0.010 1.000 1 2008 2008
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.010 1.000 1 2019 2019
dbSNP: rs1051266
rs1051266
SLC19A1
41 0.627 0.640 21 45537880 missense variant T/C;G snv 0.55; 4.4E-06 0.010 1.000 1 2011 2011
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 2005 2005
dbSNP: rs1057517457
rs1057517457
MUTYH
6 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1060503115
rs1060503115
PMS2
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.010 1.000 1 2011 2011
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs10808555
rs10808555
POU5F1B ; CASC8 ; PCAT1
6 0.925 0.080 8 127397266 intron variant G/A snv 0.65 0.010 1.000 1 2008 2008
dbSNP: rs10941112
rs10941112
AMACR ; C1QTNF3-AMACR
4 0.882 0.120 5 34004602 missense variant C/T snv 0.42 0.38 0.010 1.000 1 2007 2007
dbSNP: rs1105879
rs1105879
UGT1A10 ; UGT1A8 ; UGT1A7 ; UGT1A6 ; UGT1A9
11 0.790 0.240 2 233693556 missense variant A/C snv 0.35 0.34 0.010 1.000 1 2012 2012
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs1130864
rs1130864
CRP
27 0.672 0.520 1 159713301 3 prime UTR variant G/A snv 0.26 0.010 1.000 1 2010 2010
dbSNP: rs1131691014
rs1131691014
TP53
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2006 2006
dbSNP: rs1201299
rs1201299
TBL1XR1
1 3 177053096 intron variant C/T snv 1.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs121908874
rs121908874
TSHR ; LOC101928462
7 0.807 0.080 14 81143584 missense variant T/C snv 0.010 1.000 1 2005 2005
dbSNP: rs121912535
rs121912535
LHCGR ; GTF2A1L ; STON1-GTF2A1L
6 0.827 0.240 2 48688427 missense variant A/C snv 0.010 1.000 1 2000 2000
dbSNP: rs121913228
rs121913228
CTNNB1
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.010 1.000 1 2008 2008
dbSNP: rs121913279
rs121913279
PIK3CA
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs121913409
rs121913409
CTNNB1
21 0.708 0.400 3 41224646 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs121913529
rs121913529
KRAS
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs121913530
rs121913530
KRAS
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs121918464
rs121918464
PTPN11
25 0.708 0.440 12 112450406 missense variant G/A;C snv 0.010 1.000 1 2014 2014