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 0.050 1.000 5 2011 2015
dbSNP: rs3814113
rs3814113
5 0.827 0.200 9 16915023 upstream gene variant T/C snv 0.41 0.820 1.000 5 2009 2013
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.700 1.000 4 2002 2012
dbSNP: rs2072590
rs2072590
4 0.851 0.120 2 176177905 non coding transcript exon variant A/C;T snv 0.720 1.000 4 2010 2017
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.040 0.250 4 2010 2015
dbSNP: rs397517201
rs397517201
16 0.732 0.240 3 179218307 missense variant A/C;G;T snv 0.700 1.000 4 2006 2010
dbSNP: rs587778134
rs587778134
5 0.851 0.320 17 61776459 frameshift variant AA/-;AAAA delins 0.700 1.000 4 2015 2016
dbSNP: rs10088218
rs10088218
4 0.851 0.120 8 128531703 intron variant G/A snv 0.13 0.710 1.000 3 2010 2013
dbSNP: rs121909229
rs121909229
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 3 2001 2010
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.030 1.000 3 2010 2011
dbSNP: rs771028677
rs771028677
4 0.882 0.280 17 61684053 frameshift variant TGTT/-;TGTTTGTT delins 2.1E-05 0.700 1.000 3 2008 2016
dbSNP: rs786202610
rs786202610
3 0.925 0.240 17 61808495 frameshift variant T/- delins 0.700 1.000 3 2015 2016
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 2 2016 2017
dbSNP: rs1057519365
rs1057519365
5 0.851 0.320 17 61780931 frameshift variant TT/- delins 0.700 1.000 2 2011 2016
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 2 2008 2011
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2012 2015
dbSNP: rs11651755
rs11651755
9 0.763 0.160 17 37739849 intron variant T/C snv 0.52 0.710 1.000 2 2017 2017
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 0.700 1.000 2 2005 2012
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 2 2005 2012
dbSNP: rs121913286
rs121913286
23 0.677 0.280 3 179218306 missense variant C/A;G snv 0.700 1.000 2 2005 2012
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.700 1.000 2 2008 2011
dbSNP: rs1271572
rs1271572
16 0.708 0.400 14 64295199 intron variant A/C;T snv 0.020 1.000 2 2011 2018
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 1997 1998
dbSNP: rs2660753
rs2660753
9 0.790 0.240 3 87061524 intergenic variant T/C snv 0.76 0.020 0.500 2 2008 2011
dbSNP: rs2665390
rs2665390
8 0.776 0.160 3 156679960 intron variant C/T snv 0.92 0.710 1.000 2 2010 2012