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: rs137854575
rs137854575
APC
9 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.700 1.000 19 1991 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 0.700 1.000 14 1997 2014
dbSNP: rs876658667
rs876658667
APC
2 1.000 0.120 5 112838740 stop gained G/A snv 0.700 1.000 14 1992 2011
dbSNP: rs121913224
rs121913224
APC
14 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.700 1.000 13 1992 2015
dbSNP: rs387906234
rs387906234
APC
7 0.827 0.120 5 112839979 frameshift variant AGAG/-;AG delins 0.700 1.000 11 1992 2016
dbSNP: rs387906236
rs387906236
APC
2 0.925 0.120 5 112840205 frameshift variant GA/- delins 0.700 1.000 11 1992 2011
dbSNP: rs730882135
rs730882135
APC
2 1.000 0.120 5 112838743 frameshift variant C/- del 7.0E-06 0.700 1.000 11 1992 2015
dbSNP: rs1060503310
rs1060503310
APC
1 1.000 0.120 5 112837903 stop gained C/G snv 0.700 1.000 10 1992 2015
dbSNP: rs1554086030
rs1554086030
APC
1 1.000 0.120 5 112840229 frameshift variant TGAAA/- delins 0.700 1.000 10 1992 2011
dbSNP: rs1554086974
rs1554086974
APC
1 1.000 0.120 5 112841364 frameshift variant A/- delins 0.700 1.000 10 1992 2015
dbSNP: rs863225311
rs863225311
APC
7 0.827 0.120 5 112819347 splice region variant A/C;G snv 0.700 1.000 10 1993 2015
dbSNP: rs863225322
rs863225322
APC
2 0.925 0.120 5 112837563 frameshift variant GAGA/-;GA delins 0.700 1.000 10 1991 2015
dbSNP: rs863225332
rs863225332
APC
2 1.000 0.120 5 112838397 stop gained -/A delins 0.700 1.000 10 1992 2017
dbSNP: rs876660130
rs876660130
APC
2 1.000 0.120 5 112837593 stop gained C/T snv 0.700 1.000 10 1992 2016
dbSNP: rs1114167577
rs1114167577
APC
2 1.000 0.120 5 112840055 frameshift variant T/-;TT delins 0.700 1.000 9 1992 2011
dbSNP: rs137854580
rs137854580
APC
6 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.700 1.000 9 1993 2016
dbSNP: rs398123122
rs398123122
APC
2 0.925 0.120 5 112840063 frameshift variant -/T delins 0.700 1.000 9 1994 2013
dbSNP: rs587779352
rs587779352
APC
5 0.882 0.120 5 112838774 frameshift variant ACAAA/- delins 0.700 1.000 9 1992 2015
dbSNP: rs1057517568
rs1057517568
APC
1 1.000 0.120 5 112841965 stop gained T/A snv 0.700 1.000 8 1992 2015
dbSNP: rs1060503326
rs1060503326
APC
1 1.000 0.120 5 112839170 frameshift variant CA/- delins 0.700 1.000 8 1991 2010
dbSNP: rs1064794229
rs1064794229
APC
1 1.000 0.120 5 112839511 frameshift variant TAAAA/- delins 0.700 1.000 8 1992 2015
dbSNP: rs1131691142
rs1131691142
APC
2 1.000 0.120 5 112841644 frameshift variant C/- delins 0.700 1.000 8 1992 2015
dbSNP: rs121913332
rs121913332
APC
5 0.925 0.120 5 112839942 stop gained C/G;T snv 4.0E-06 0.700 1.000 8 1993 2016
dbSNP: rs137854573
rs137854573
APC
10 0.807 0.120 5 112828889 stop gained C/T snv 0.700 1.000 8 1992 2016
dbSNP: rs1554084794
rs1554084794
APC
1 1.000 0.120 5 112838770 frameshift variant TAAAA/- delins 0.700 1.000 8 1992 2015