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: rs6983267
rs6983267
62 0.578 0.440 8 127401060 non coding transcript exon variant G/T snv 0.37 0.730 1.000 17 2007 2019
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 16 2005 2015
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 14 2004 2016
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 12 2004 2016
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 1.000 11 2004 2016
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: rs397517201
rs397517201
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 11 2004 2016
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: 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: rs121913250
rs121913250
25 0.683 0.440 1 114716127 missense variant C/A;G;T snv 0.700 1.000 9 2006 2016
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.090 0.889 9 2003 2019
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: rs1057519725
rs1057519725
6 0.851 0.320 12 25225627 missense variant G/A snv 7.0E-06 0.700 1.000 8 2005 2011
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.700 1.000 8 2006 2016
dbSNP: rs121913327
rs121913327
APC
3 0.925 0.120 5 112839606 stop gained C/G;T snv 0.700 1.000 8 1992 2015
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.700 1.000 8 2002 2016
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: rs377767347
rs377767347
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 8 1996 2016
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.700 1.000 8 2008 2019
dbSNP: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.700 1.000 8 2007 2019
dbSNP: rs80338963
rs80338963
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 8 1996 2016