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: rs2555639
rs2555639 		7 0.851 0.080 4 174540379 non coding transcript exon variant T/C snv 0.38 0.020 1.000 2 2013 2020
dbSNP: rs16906252
rs16906252
MGMT
19 0.732 0.200 10 129467281 synonymous variant C/T snv 5.5E-02 5.1E-02 0.010 1.000 1 2020 2020
dbSNP: rs2189517
rs2189517
RAD51B
3 0.882 0.080 14 68536271 intron variant A/G snv 0.49 0.010 1.000 1 2020 2020
dbSNP: rs2585428
rs2585428
CYP24A1
11 0.763 0.200 20 54170358 intron variant C/T snv 0.46 0.010 1.000 1 2020 2020
dbSNP: rs4809960
rs4809960
CYP24A1
8 0.807 0.240 20 54169534 intron variant T/C snv 0.20 0.010 1.000 1 2020 2020
dbSNP: rs6022999
rs6022999
CYP24A1
9 0.790 0.160 20 54171474 intron variant A/G snv 0.36 0.010 1.000 1 2020 2020
dbSNP: rs6068816
rs6068816
CYP24A1
12 0.752 0.200 20 54164552 synonymous variant C/T snv 0.12 8.9E-02 0.010 1.000 1 2020 2020
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.943 35 2004 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.943 35 2004 2019
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.770 1.000 21 2007 2019
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.750 1.000 12 2007 2019
dbSNP: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.720 1.000 9 2008 2019
dbSNP: rs16892766
rs16892766 		18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.710 1.000 7 2008 2019
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.720 1.000 6 2008 2019
dbSNP: rs704017
rs704017
ZMIZ1-AS1
10 0.776 0.080 10 79059375 intron variant A/G snv 0.55 0.700 1.000 6 2014 2019
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.050 1.000 5 2006 2019
dbSNP: rs11255841
rs11255841 		11 0.776 0.080 10 8697617 intergenic variant T/A snv 0.25 0.700 1.000 5 2014 2019
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: rs961253
rs961253 		15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.710 1.000 5 2008 2019
dbSNP: rs10411210
rs10411210
RHPN2
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.710 1.000 4 2008 2019
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: 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: 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