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: rs3789243
rs3789243
14 0.776 0.120 7 87591570 intron variant A/G snv 0.50 0.010 < 0.001 1 2009 2009
dbSNP: rs6842
rs6842
1 7 16794973 missense variant A/G;T snv 0.43 0.38 0.010 1.000 1 2009 2009
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2003 2005
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 0.020 1.000 2 2003 2005
dbSNP: rs1801166
rs1801166
APC
17 0.732 0.200 5 112839543 missense variant G/C snv 4.4E-03 5.6E-03 0.010 1.000 1 2005 2005
dbSNP: rs369999291
rs369999291
APC
2 5 112767315 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs876659156
rs876659156
APC
1 5 112839714 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 1.000 23 2003 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 21 2003 2019
dbSNP: rs6886
rs6886
4 0.925 0.160 2 85394936 missense variant T/A;C snv 0.58 0.010 1.000 1 2014 2014
dbSNP: rs121434265
rs121434265
3 0.925 0.080 1 193125142 stop gained C/G snv 0.010 1.000 1 2018 2018
dbSNP: rs1057519883
rs1057519883
14 0.742 0.280 9 21971120 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs231775
rs231775
115 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs121913400
rs121913400
26 0.683 0.360 3 41224610 missense variant C/A;G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs121913403
rs121913403
23 0.683 0.240 3 41224622 missense variant C/A;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121913412
rs121913412
19 0.724 0.280 3 41224633 missense variant A/C;G;T snv 0.010 1.000 1 1998 1998
dbSNP: rs1049074086
rs1049074086
9 0.925 0.120 11 1759567 missense variant A/G snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs2229080
rs2229080
DCC
16 0.742 0.320 18 52906232 missense variant C/A;G snv 0.45 0.010 1.000 1 1997 1997
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 1.000 2 2014 2015
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2014 2015
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.020 1.000 2 2014 2015
dbSNP: rs372043866
rs372043866
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs368094521
rs368094521
5 0.925 0.120 17 39724861 missense variant G/A snv 1.2E-03 2.6E-04 0.010 1.000 1 2009 2009