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: rs6687758
rs6687758 		11 0.763 0.200 1 221991606 regulatory region variant A/G snv 0.20 0.700 1.000 5 2010 2019
dbSNP: rs7229639
rs7229639
SMAD7
13 0.763 0.080 18 48924606 intron variant A/G snv 0.87 0.700 1.000 5 2014 2019
dbSNP: rs10505477
rs10505477
POU5F1B ; CASC8 ; PCAT1
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.700 1.000 4 2007 2018
dbSNP: rs10774214
rs10774214
CCND2-AS1
9 0.790 0.080 12 4259186 intron variant T/C snv 0.54 0.700 1.000 4 2013 2019
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.700 1.000 4 2008 2019
dbSNP: rs11196172
rs11196172
TCF7L2
18 0.708 0.200 10 112967084 intron variant G/A snv 0.13 0.700 1.000 4 2014 2019
dbSNP: rs121913333
rs121913333
APC
6 0.882 0.120 5 112838220 stop gained C/A;T snv 0.700 1.000 4 1992 2014
dbSNP: rs121913462
rs121913462
APC
1 5 112839510 stop gained G/A;T snv 0.700 1.000 4 1992 2015
dbSNP: rs174537
rs174537
MYRF ; TMEM258
23 0.708 0.400 11 61785208 non coding transcript exon variant G/T snv 0.28 0.700 1.000 4 2014 2019
dbSNP: rs2423279
rs2423279 		10 0.790 0.080 20 7831703 downstream gene variant T/C snv 0.29 0.700 1.000 4 2013 2019
dbSNP: rs3184504
rs3184504
ATXN2 ; SH2B3
92 0.572 0.600 12 111446804 missense variant T/A;C;G snv 0.67 0.700 1.000 4 2015 2019
dbSNP: rs3217810
rs3217810
CCND2
10 0.776 0.080 12 4279105 intron variant C/T snv 8.7E-02 0.700 1.000 4 2013 2019
dbSNP: rs3824999
rs3824999
POLD3
9 0.790 0.080 11 74634505 intron variant T/G snv 0.40 0.700 1.000 4 2012 2019
dbSNP: rs4779584
rs4779584 		16 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.700 1.000 4 2008 2015
dbSNP: rs6066825
rs6066825
PREX1
10 0.776 0.080 20 48723580 intron variant A/G;T snv 0.700 1.000 4 2015 2019
dbSNP: rs647161
rs647161
C5orf66
10 0.776 0.080 5 135163402 intron variant C/A snv 0.63 0.700 1.000 4 2013 2019
dbSNP: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.700 1.000 4 2008 2019
dbSNP: rs10411210
rs10411210
RHPN2
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.700 1.000 3 2008 2019
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 3 2006 2016
dbSNP: rs1078643
rs1078643
TMEM238L ; TMEM220-AS1
10 0.776 0.080 17 10803924 missense variant G/A;C snv 0.700 1.000 3 2019 2019
dbSNP: rs11190164
rs11190164 		10 0.776 0.080 10 99591947 intergenic variant A/G snv 0.19 0.700 1.000 3 2015 2019
dbSNP: rs121913283
rs121913283
PIK3CA
16 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 3 2005 2016
dbSNP: rs121913284
rs121913284
PIK3CA
11 0.776 0.160 3 179203765 missense variant T/A;G snv 0.700 1.000 3 2009 2016
dbSNP: rs121913287
rs121913287
PIK3CA
12 0.752 0.400 3 179199088 missense variant G/A snv 0.700 1.000 3 2009 2016
dbSNP: rs12241008
rs12241008
VTI1A
16 0.716 0.160 10 112520943 intron variant T/C snv 0.13 0.700 1.000 3 2014 2019