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: rs1057519945
rs1057519945
POLE
12 0.776 0.200 12 132673703 missense variant C/A;T snv 0.700 0
dbSNP: rs1555225958
rs1555225958
POLE
2 1.000 12 132661097 stop gained C/A snv 0.700 0
dbSNP: rs761329565
rs761329565
POLE
1 1.000 12 132681201 frameshift variant C/- delins 4.0E-06 0.700 0
dbSNP: rs483352909
rs483352909
POLE
11 0.752 0.160 12 132673664 missense variant G/A;C snv 1.6E-05 0.800 1.000 10 2003 2017
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.700 1.000 14 2007 2019
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.700 1.000 8 2007 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: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 8 2008 2019
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.700 1.000 6 2008 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: rs4779584
rs4779584 		16 0.732 0.160 15 32702555 intergenic variant T/C snv 0.67 0.700 1.000 4 2008 2015
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: rs4444235
rs4444235 		23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.700 1.000 3 2008 2019
dbSNP: rs7014346
rs7014346
POU5F1B ; CASC8 ; PCAT1
14 0.732 0.240 8 127412547 intron variant A/G snv 0.63 0.700 1.000 3 2008 2016
dbSNP: rs9929218
rs9929218
CDH1
16 0.732 0.160 16 68787043 intron variant G/A snv 0.28 0.700 1.000 1 2008 2008
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: rs10936599
rs10936599
MYNN
32 0.637 0.600 3 169774313 synonymous variant C/T snv 0.29 0.21 0.700 1.000 1 2010 2010
dbSNP: rs11169552
rs11169552
ATF1
10 0.776 0.080 12 50761880 upstream gene variant C/T snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386
LAMA5
14 0.776 0.080 20 62345988 intron variant T/C snv 0.56 0.700 1.000 1 2010 2010
dbSNP: rs6691170
rs6691170 		12 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs7758229
rs7758229
SLC22A3
16 0.732 0.120 6 160419220 intron variant G/A;T snv 0.700 1.000 1 2011 2011
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: rs1321311
rs1321311 		15 0.742 0.160 6 36655123 regulatory region variant C/A snv 0.28 0.700 1.000 2 2012 2019
dbSNP: rs5934683
rs5934683
GPR143
9 0.790 0.080 X 9783434 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012