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: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.020 1.000 2 2011 2013
dbSNP: rs143969848
rs143969848
4 0.925 0.160 3 36958902 TF binding site variant G/A snv 9.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.010 1.000 1 2012 2012
dbSNP: rs961253
rs961253
15 0.732 0.240 20 6423634 intergenic variant C/A snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.020 1.000 2 2005 2017
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 2005 2017
dbSNP: rs1380087059
rs1380087059
APC
3 0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs587781394
rs587781394
APC
3 0.882 0.160 5 112837812 missense variant G/A;C snv 4.0E-06; 8.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs758712508
rs758712508
APC
2 0.925 0.160 5 112838286 missense variant C/T snv 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.957 23 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.957 23 2004 2019
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.030 1.000 3 2011 2013
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2008 2008
dbSNP: rs1056827
rs1056827
24 0.683 0.400 2 38075034 missense variant C/A snv 0.32 0.35 0.010 < 0.001 1 2018 2018
dbSNP: rs863224453
rs863224453
1 1.000 0.160 2 47385165 splice acceptor variant G/A snv 0.700 0
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 1.000 1 2009 2009
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs63750781
rs63750781
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.710 1.000 39 1996 2013
dbSNP: rs63751194
rs63751194
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.710 1.000 25 1999 2014
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.720 0.947 19 1995 2014
dbSNP: rs63751247
rs63751247
5 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 16 1997 2018
dbSNP: rs63750217
rs63750217
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.720 1.000 15 1975 2017
dbSNP: rs63749795
rs63749795
8 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 14 1992 2016
dbSNP: rs63751275
rs63751275
6 0.851 0.240 3 37048973 missense variant C/A;G;T snv 1.2E-05; 2.0E-05 0.700 1.000 13 2002 2017