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: rs786201856
rs786201856
APC
3 0.776 0.200 5 112815507 stop gained C/T snv 0.730 1.000 3 2000 2016
dbSNP: rs137854580
rs137854580
APC
3 0.827 0.120 5 112827194 stop gained C/G;T snv 2.8E-05 0.720 1.000 2 2000 2012
dbSNP: rs62619935
rs62619935
APC
3 0.807 0.120 5 112792446 stop gained C/G;T snv 4.0E-06 0.720 1.000 2 2000 2012
dbSNP: rs72541816
rs72541816
APC
1 1.000 0.120 5 112843456 missense variant C/G snv 2.9E-03 3.5E-03 0.720 1.000 2 1997 2001
dbSNP: rs121913224
rs121913224
APC
2 0.742 0.200 5 112839515 frameshift variant AAAGA/- delins 0.710 1.000 1 1992 2018
dbSNP: rs137854575
rs137854575
APC
1 0.807 0.120 5 112838399 stop gained C/A;G;T snv 4.7E-04 0.710 1.000 1 1992 2009
dbSNP: rs397515734
rs397515734
APC
1 0.827 0.120 5 112792494 stop gained C/T snv 0.710 1.000 1 1992 2014
dbSNP: rs28933979
rs28933979
TTR
68 0.587 0.600 18 31592974 missense variant G/A;C snv 1.0E-04 0.100 0.972 36 1992 2019
dbSNP: rs459552
rs459552
APC
13 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.070 1.000 7 2001 2019
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
36 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
dbSNP: rs267607161
rs267607161
TTR
16 0.742 0.360 18 31598580 missense variant G/T snv 4.0E-06 7.0E-06 0.050 1.000 5 1999 2019
dbSNP: rs1801166
rs1801166
APC
16 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.040 1.000 4 2007 2015
dbSNP: rs2266780
rs2266780
9 0.827 0.280 1 171114102 missense variant A/G snv 0.15 0.14 0.030 1.000 3 2004 2007
dbSNP: rs36053993
rs36053993
24 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.030 1.000 3 2003 2008
dbSNP: rs587782868
rs587782868
APC
5 0.827 0.200 5 112827951 missense variant G/A;C snv 3.2E-05 0.030 1.000 3 2003 2008
dbSNP: rs1057517457
rs1057517457
4 0.851 0.120 1 45332804 frameshift variant GCCAGCCCAG/- delins 7.0E-06 0.020 1.000 2 2013 2015
dbSNP: rs121913530
rs121913530
55 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.020 1.000 2 2013 2015
dbSNP: rs121918069
rs121918069
TTR
3 0.925 0.200 18 31595152 missense variant T/A;G snv 0.020 1.000 2 2007 2008
dbSNP: rs121918075
rs121918075
TTR
15 0.752 0.280 18 31598632 missense variant A/G snv 0.020 1.000 2 2005 2014
dbSNP: rs34612342
rs34612342
24 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.020 1.000 2 2003 2007
dbSNP: rs565453
rs565453
4 0.882 0.160 5 112849696 intron variant A/C;G snv 0.020 1.000 2 2010 2013
dbSNP: rs104893877
rs104893877
58 0.614 0.360 4 89828149 missense variant C/T snv 0.010 1.000 1 2010 2010
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