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
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.980 51 2005 2020
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.870 23 2002 2018
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.950 20 1997 2007
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.100 0.933 15 2006 2018
dbSNP: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.100 0.933 15 2007 2019
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.100 0.933 15 2006 2018
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.100 1.000 13 2010 2019
dbSNP: rs1805192
rs1805192
121 0.510 0.840 3 12379739 missense variant C/G snv 0.070 1.000 7 2005 2010
dbSNP: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.070 1.000 7 2009 2017
dbSNP: rs12953717
rs12953717
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.060 1.000 6 2008 2014
dbSNP: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.050 1.000 5 2012 2019
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.040 1.000 4 2014 2019
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.040 0.750 4 2006 2014
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 0.750 4 2008 2017
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.040 0.750 4 2014 2018
dbSNP: rs10505477
rs10505477
31 0.658 0.400 8 127395198 intron variant A/G snv 0.40 0.030 1.000 3 2014 2018
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.030 1.000 3 2010 2014
dbSNP: rs1060503115
rs1060503115
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.030 1.000 3 2008 2014
dbSNP: rs12255372
rs12255372
28 0.667 0.480 10 113049143 intron variant G/A;T snv 0.030 1.000 3 2016 2019
dbSNP: rs2275913
rs2275913
105 0.514 0.760 6 52186235 upstream gene variant G/A snv 0.28 0.030 1.000 3 2014 2017
dbSNP: rs35502531
rs35502531
8 0.827 0.160 3 37047639 missense variant AA/GC mnv 0.030 1.000 3 2011 2014
dbSNP: rs10411210
rs10411210
13 0.742 0.160 19 33041394 intron variant C/T snv 0.22 0.020 1.000 2 2015 2015
dbSNP: rs10795668
rs10795668
17 0.724 0.160 10 8659256 upstream gene variant G/A snv 0.24 0.020 1.000 2 2010 2012
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2019 2019