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: rs2228612
rs2228612
12 0.763 0.160 19 10162696 missense variant T/A;C;G snv 0.14 0.010 1.000 1 2013 2013
dbSNP: rs1284806277
rs1284806277
MOK
13 0.827 0.200 14 102251978 missense variant A/G snv 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs230490
rs230490
3 0.882 0.080 4 102466262 downstream gene variant G/A snv 0.34 0.010 1.000 1 2013 2013
dbSNP: rs4648110
rs4648110
3 0.925 0.080 4 102612664 intron variant T/A snv 0.22 0.010 1.000 1 2010 2010
dbSNP: rs997476
rs997476
3 0.882 0.080 4 102620848 downstream gene variant G/T snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs750521832
rs750521832
14 0.732 0.200 11 102718452 missense variant A/G snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs7911488
rs7911488
3 0.882 0.080 10 103394332 5 prime UTR variant A/G snv 0.34 0.26 0.010 1.000 1 2017 2017
dbSNP: rs4135113
rs4135113
TDG
5 0.925 0.080 12 103982915 missense variant G/A;C;T snv 4.7E-02 0.010 1.000 1 2019 2019
dbSNP: rs2302615
rs2302615
7 0.807 0.120 2 10448012 intron variant C/T snv 0.31 0.010 1.000 1 2018 2018
dbSNP: rs1383147053
rs1383147053
DLD
4 0.882 0.120 7 107901762 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs1805097
rs1805097
22 0.689 0.360 13 109782884 missense variant C/G;T snv 0.35 0.010 1.000 1 2006 2006
dbSNP: rs773442580
rs773442580
EGF
7 0.851 0.080 4 109913367 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs3802842
rs3802842
25 0.695 0.280 11 111300984 intron variant C/A snv 0.71 0.020 1.000 2 2008 2013
dbSNP: rs777980327
rs777980327
APC
21 0.716 0.280 5 112837567 missense variant A/T snv 4.0E-06 7.0E-06 0.010 < 0.001 1 2007 2007
dbSNP: rs1380087059
rs1380087059
APC
3 0.882 0.160 5 112837749 missense variant G/C snv 4.0E-06 0.010 1.000 1 2003 2003
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 2003 2003
dbSNP: rs1463038513
rs1463038513
APC
36 0.658 0.440 5 112839511 frameshift variant TAAA/- delins 0.100 0.800 10 1997 2004
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 0.100 0.800 10 1997 2004
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.010 1.000 1 2001 2001
dbSNP: rs7903146
rs7903146
93 0.554 0.680 10 112998590 intron variant C/G;T snv 0.020 1.000 2 2008 2008
dbSNP: rs16892766
rs16892766
18 0.716 0.240 8 116618444 intergenic variant A/C snv 9.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs2770150
rs2770150
4 0.925 0.080 9 117700861 upstream gene variant A/G snv 0.22 0.010 < 0.001 1 2016 2016
dbSNP: rs10759932
rs10759932
15 0.732 0.560 9 117702866 upstream gene variant T/C snv 0.18 0.010 < 0.001 1 2016 2016
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.020 0.500 2 2011 2016
dbSNP: rs11536898
rs11536898
3 0.882 0.080 9 117717932 3 prime UTR variant C/A snv 0.14 0.010 1.000 1 2012 2012