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: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.938 32 2004 2019
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
dbSNP: rs397507444
rs397507444
MTHFR
306 0.405 0.880 1 11794407 missense variant T/G snv 0.090 0.889 9 2004 2014
dbSNP: rs6983267
rs6983267
POU5F1B ; CASC8 ; PCAT1 ; CCAT2
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.070 1.000 7 2008 2013
dbSNP: rs397517132
rs397517132
EGFR
48 0.623 0.280 7 55191846 missense variant A/T snv 0.060 1.000 6 2012 2015
dbSNP: rs4939827
rs4939827
SMAD7
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.050 1.000 5 2008 2016
dbSNP: rs112445441
rs112445441
KRAS
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.040 1.000 4 2015 2019
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.030 0.667 3 2005 2010
dbSNP: rs909797662
rs909797662
EGFR
8 0.790 0.120 7 55191837 missense variant G/A snv 0.030 1.000 3 2015 2018
dbSNP: rs10795668
rs10795668
LOC105376400
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.020 1.000 2 2010 2013
dbSNP: rs10934578
rs10934578
CASR
4 0.925 0.080 3 122258435 intron variant G/T snv 0.30 0.020 1.000 2 2008 2017
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: rs3802842
rs3802842
COLCA2 ; COLCA1
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.020 1.000 2 2008 2013
dbSNP: rs4464148
rs4464148
SMAD7
7 0.827 0.120 18 48932662 intron variant T/C snv 0.25 0.020 1.000 2 2009 2010
dbSNP: rs5029748
rs5029748
IKBKB
2 0.925 0.080 8 42283031 intron variant G/T snv 0.22 0.020 1.000 2 2010 2013
dbSNP: rs7903146
rs7903146
TCF7L2
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2008 2008
dbSNP: rs10222633
rs10222633
CASR
4 0.925 0.080 3 122258079 intron variant G/A snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2005 2005
dbSNP: rs10411210
rs10411210
RHPN2
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.010 1.000 1 2013 2013
dbSNP: rs1044129
rs1044129
RYR3 ; AVEN
9 0.790 0.200 15 33866065 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs10450310
rs10450310
MBL2
2 0.925 0.080 10 52764898 downstream gene variant G/A snv 0.29 0.010 1.000 1 2012 2012
dbSNP: rs1051753269
rs1051753269
EGFR
7 0.790 0.120 7 55174029 missense variant G/A snv 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1057519725
rs1057519725
KRAS
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs1057519822
rs1057519822
MAP2K1
3 0.925 0.080 15 66481818 missense variant T/A snv 0.010 1.000 1 2019 2019
dbSNP: rs1060503118
rs1060503118
PMS2
2 0.925 0.080 7 5987422 missense variant C/T snv 0.010 1.000 1 2015 2015