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: rs121913527
rs121913527
9 0.807 0.320 12 25225628 missense variant C/A;G;T snv 0.700 1.000 8 2005 2011
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2002 2011
dbSNP: rs1554774973
rs1554774973
2 1.000 0.120 9 84955504 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs7758229
rs7758229
16 0.732 0.120 6 160419220 intron variant G/A;T snv 0.700 1.000 1 2011 2011
dbSNP: rs1057519699
rs1057519699
2 3 179218315 missense variant G/A snv 0.700 1.000 10 2004 2012
dbSNP: rs1057519724
rs1057519724
3 1.000 0.080 10 87933236 missense variant G/A;T snv 0.700 1.000 10 2004 2012
dbSNP: rs121909219
rs121909219
25 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 1.000 10 2004 2012
dbSNP: rs121913289
rs121913289
4 1.000 0.080 10 87958013 frameshift variant A/- delins 0.700 1.000 10 2004 2012
dbSNP: rs727502902
rs727502902
4 0.882 0.080 7 140753338 inframe insertion -/TAG delins 4.0E-06 0.700 1.000 6 2009 2012
dbSNP: rs1057519760
rs1057519760
1 7 55160314 missense variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs5934683
rs5934683
9 0.790 0.080 X 9783434 intron variant T/C snv 0.50 0.700 1.000 1 2012 2012
dbSNP: rs11903757
rs11903757
11 0.763 0.160 2 191722478 intron variant T/C snv 0.16 0.700 1.000 1 2013 2013
dbSNP: rs13130787
rs13130787
9 0.790 0.080 4 93965880 intergenic variant T/C snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs1665650
rs1665650
12 0.752 0.160 10 116727589 intron variant T/C snv 0.69 0.700 1.000 1 2013 2013
dbSNP: rs3217901
rs3217901
9 0.790 0.080 12 4296223 intron variant A/G snv 0.35 0.700 1.000 1 2013 2013
dbSNP: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2013 2013
dbSNP: rs59336
rs59336
10 0.776 0.160 12 114678547 intron variant T/A;G snv 0.49 0.700 1.000 1 2013 2013
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 12 2005 2014
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 1.000 11 2005 2014
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.700 1.000 9 2005 2014
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.700 1.000 9 2005 2014
dbSNP: rs121913535
rs121913535
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.700 1.000 9 2005 2014
dbSNP: rs121913361
rs121913361
7 0.807 0.280 7 140753349 missense variant C/A;G;T snv 0.700 1.000 7 2002 2014
dbSNP: rs74535574
rs74535574
APC
1 5 112839879 stop gained C/A;T snv 0.700 1.000 7 1992 2014
dbSNP: rs121913329
rs121913329
APC
1 5 112839726 stop gained C/T snv 0.700 1.000 5 1994 2014