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: rs1058818
rs1058818
2 0.925 0.200 Y 18991654 intron variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1058881
rs1058881
2 0.925 0.200 Y 18991085 intron variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1179254201
rs1179254201
APC
2 0.925 0.200 5 112767213 missense variant T/C snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1182822563
rs1182822563
APC
2 0.925 0.200 5 112828939 synonymous variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.010 1.000 1 2018 2018
dbSNP: rs1331131200
rs1331131200
APC
2 0.925 0.200 5 112827976 synonymous variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs150973053
rs150973053
APC
4 0.851 0.200 5 112767356 missense variant A/G snv 3.5E-04 2.7E-04 0.010 1.000 1 2008 2008
dbSNP: rs374853436
rs374853436
APC
2 0.925 0.200 5 112843972 missense variant G/A snv 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs3838646
rs3838646
8 0.827 0.320 Y 18991182 intron variant CA/- del 0.010 1.000 1 2015 2015
dbSNP: rs454886
rs454886
APC
10 0.763 0.280 5 112810420 intron variant A/G snv 0.26 0.010 1.000 1 2008 2008
dbSNP: rs52812045
rs52812045
7 0.851 0.240 Y 18992540 non coding transcript exon variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs587782868
rs587782868
APC
5 0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs730882128
rs730882128
APC
2 0.925 0.200 5 112840500 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs749782426
rs749782426
APC
2 0.925 0.200 5 112840377 missense variant G/C;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2008 2008
dbSNP: rs751945983
rs751945983
APC
2 0.925 0.200 5 112821942 synonymous variant A/G snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs753314927
rs753314927
APC
3 0.882 0.200 5 112838644 missense variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs878859113
rs878859113
11 0.763 0.360 6 106971734 missense variant G/A snv 0.35 0.010 1.000 1 2015 2015
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.020 1.000 2 2007 2015
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.030 1.000 3 2003 2010
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.060 1.000 6 1998 2015
dbSNP: rs1801155
rs1801155
APC
42 0.649 0.440 5 112839514 missense variant T/A snv 8.0E-06; 2.0E-03 1.2E-03 0.060 1.000 6 1998 2015