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: rs137854573
rs137854573
APC
10 0.807 0.120 5 112828889 stop gained C/T snv 0.700 0
dbSNP: rs137854575
rs137854575
APC
9 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.700 0
dbSNP: rs140342925
rs140342925
5 0.882 0.120 1 45332445 missense variant C/T snv 8.4E-05 8.4E-05 0.700 0
dbSNP: rs1431341935
rs1431341935
1 15 45023318 frameshift variant -/G delins 4.5E-06 0.010 1.000 1 2015 2015
dbSNP: rs1434545235
rs1434545235
11 0.752 0.440 10 121565500 missense variant T/C snv 4.0E-06 0.700 0
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: rs145945630
rs145945630
APC
7 0.827 0.120 5 112754960 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs149633775
rs149633775
2 1.000 0.120 17 7673773 missense variant G/A;C;T snv 7.2E-05; 4.0E-06 0.700 0
dbSNP: rs1553125914
rs1553125914
2 1.000 0.120 1 45331512 frameshift variant -/TC delins 0.700 0
dbSNP: rs1554085355
rs1554085355
APC
5 0.851 0.120 5 112839461 stop gained T/A snv 0.700 0
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.700 0
dbSNP: rs28933369
rs28933369
5 0.925 0.080 17 39724744 missense variant G/A snv 0.700 0
dbSNP: rs28933379
rs28933379
APC
2 1.000 0.080 5 112838953 missense variant G/A snv 0.700 0
dbSNP: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.700 0
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: rs372267274
rs372267274
5 0.882 0.120 1 45333171 splice acceptor variant C/G;T snv 0.700 0
dbSNP: rs397515734
rs397515734
APC
7 0.827 0.120 5 112792494 stop gained C/T snv 0.700 0
dbSNP: rs587776802
rs587776802
2 1.000 0.080 3 179234358 frameshift variant -/A delins 0.700 0
dbSNP: rs587780088
rs587780088
5 0.882 0.120 1 45334493 stop gained G/A;C snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs587781392
rs587781392
APC
7 0.827 0.120 5 112780895 stop gained 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: rs62619935
rs62619935
APC
8 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.700 0
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: rs77543610
rs77543610
28 0.667 0.560 10 121520160 missense variant G/C snv 0.700 0