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: rs863225311
rs863225311
APC
7 0.827 0.120 5 112819347 splice region variant A/C;G snv 0.700 0
dbSNP: rs372267274
rs372267274
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs587781628
rs587781628
5 0.882 0.120 1 45331558 splice acceptor variant T/C snv 2.4E-05 7.0E-06 0.700 0
dbSNP: rs1431341935
rs1431341935
1 15 45023318 frameshift variant -/G delins 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs1553125914
rs1553125914
2 1.000 0.120 1 45331512 frameshift variant -/TC delins 0.700 0
dbSNP: rs587776802
rs587776802
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0
dbSNP: rs876660765
rs876660765
APC
6 0.851 0.120 5 112815594 splice donor variant G/A snv 0.700 0
dbSNP: rs121918491
rs121918491
15 0.716 0.440 10 121517371 synonymous variant C/T snv 4.0E-06 0.700 0
dbSNP: rs895819
rs895819
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.020 0.500 2 2019 2020
dbSNP: rs36053993
rs36053993
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.700 1.000 23 2002 2014
dbSNP: rs1057519803
rs1057519803
4 0.925 0.080 12 56088138 missense variant G/A snv 0.700 1.000 1 2013 2013
dbSNP: rs1057519836
rs1057519836
2 3 41224630 missense variant A/C;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs1057519891
rs1057519891
6 0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131691021
rs1131691021
21 0.716 0.120 17 7675097 missense variant A/C;G snv 0.010 1.000 1 2015 2015
dbSNP: rs121434595
rs121434595
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913228
rs121913228
14 0.742 0.200 3 41224621 missense variant T/C;G snv 0.700 1.000 1 2014 2014
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.700 1.000 1 2014 2014
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.710 1.000 1 2015 2015
dbSNP: rs1342376116
rs1342376116
1 1 26696438 missense variant G/T snv 0.010 1.000 1 2015 2015
dbSNP: rs1440200916
rs1440200916
2 4 54258803 missense variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1452231640
rs1452231640
4 1.000 0.080 8 42339015 missense variant T/C snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1057519044
rs1057519044
11 0.752 0.440 10 121517390 missense variant C/T snv 0.700 0
dbSNP: rs121908382
rs121908382
2 1.000 0.080 1 45331530 missense variant G/A snv 0.700 0