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: rs1057519699
rs1057519699
2 3 179218315 missense variant G/A snv 0.700 1.000 10 2004 2012
dbSNP: rs1057519740
rs1057519740
1 18 51065532 missense variant C/A snv 0.700 1.000 7 1996 2007
dbSNP: rs1057519741
rs1057519741
1 18 51078417 missense variant G/T snv 0.700 1.000 7 1996 2007
dbSNP: rs121913328
rs121913328
APC
1 5 112839693 stop gained C/T snv 0.700 1.000 7 1992 2015
dbSNP: rs74535574
rs74535574
APC
1 5 112839879 stop gained C/A;T snv 0.700 1.000 7 1992 2014
dbSNP: rs121913326
rs121913326
APC
1 5 112839729 stop gained G/T snv 0.700 1.000 5 1992 2015
dbSNP: rs121913329
rs121913329
APC
1 5 112839726 stop gained C/T snv 0.700 1.000 5 1994 2014
dbSNP: rs121913462
rs121913462
APC
1 5 112839510 stop gained G/A;T snv 0.700 1.000 4 1992 2015
dbSNP: rs1057519754
rs1057519754
1 19 40236313 missense variant T/C snv 0.700 1.000 2 2005 2014
dbSNP: rs1057519760
rs1057519760
1 7 55160314 missense variant A/G snv 0.700 1.000 1 2012 2012
dbSNP: rs1414521156
rs1414521156
1 5 102459731 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs587780424
rs587780424
1 3 12433975 missense variant A/C snv 0.010 1.000 1 2005 2005
dbSNP: rs770292690
rs770292690
1 12 109908872 missense variant C/T snv 5.6E-05 9.8E-05 0.010 1.000 1 2016 2016
dbSNP: rs869312784
rs869312784
APC
1 5 112838674 missense variant A/G snv 0.700 0
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.790 0.970 33 2002 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.090 0.889 9 2003 2019
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2002 2002
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 12 2005 2014
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 13 2004 2016
dbSNP: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.020 1.000 2 2002 2011
dbSNP: rs1800469
rs1800469
78 0.547 0.760 19 41354391 intron variant A/G snv 0.69 0.700 1.000 3 2014 2016
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 12 2004 2016