Source: ALL
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: rs143353451
rs143353451
MUTYH
5 0.851 0.120 1 45332794 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 1.2E-05 0.010 1.000 1 2004 2004
dbSNP: rs1458766475
rs1458766475
SELE ; C1orf112
41 0.637 0.680 1 169732649 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs147079820
rs147079820
KIF2C
2 0.925 0.080 1 44758123 missense variant G/A snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1800872
rs1800872
IL10 ; IL19
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2014 2014
dbSNP: rs1800890
rs1800890
IL19
29 0.658 0.400 1 206776020 intron variant A/T snv 0.32 0.010 1.000 1 2009 2009
dbSNP: rs1800947
rs1800947
CRP
28 0.683 0.440 1 159713648 splice region variant C/A;G;T snv 4.4E-05; 5.1E-02; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs1801131
rs1801131
MTHFR
93 0.535 0.840 1 11794419 missense variant T/G snv 0.29 0.26 0.010 1.000 1 2011 2011
dbSNP: rs1801160
rs1801160
DPYD ; DPYD-AS1
6 0.807 0.240 1 97305364 missense variant C/T snv 4.7E-02 3.9E-02 0.010 1.000 1 2017 2017
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2808630
rs2808630 		13 0.742 0.240 1 159711078 downstream gene variant C/T snv 0.77 0.010 1.000 1 2019 2019
dbSNP: rs3219489
rs3219489
MUTYH
24 0.672 0.360 1 45331833 missense variant C/A;G snv 0.29 0.27 0.010 1.000 1 2008 2008
dbSNP: rs34296044
rs34296044
EXO1
3 0.925 0.080 1 241885371 frameshift variant C/- delins 0.010 1.000 1 2005 2005
dbSNP: rs368705607
rs368705607
MIXL1
7 0.882 0.120 1 226225766 missense variant T/C;G snv 2.8E-05; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs369410616
rs369410616
MUTYH
10 0.752 0.280 1 45329400 missense variant C/T snv 2.0E-05 2.8E-05 0.010 < 0.001 1 2008 2008
dbSNP: rs4149963
rs4149963
EXO1
7 0.851 0.120 1 241872080 missense variant C/T snv 0.11; 6.8E-05 7.6E-02 0.010 1.000 1 2005 2005
dbSNP: rs4659744
rs4659744
MTR
2 0.925 0.080 1 236896158 intron variant G/C snv 0.34 0.010 1.000 1 2010 2010
dbSNP: rs4950928
rs4950928
CHI3L1
33 0.653 0.560 1 203186754 upstream gene variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs5275
rs5275
PTGS2
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs5361
rs5361
SELE ; C1orf112
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs587782041
rs587782041
MUTYH
2 0.925 0.080 1 45333297 missense variant G/A;T snv 6.0E-05 7.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs6691170
rs6691170 		12 0.776 0.080 1 221872104 intergenic variant G/T snv 0.34 0.010 1.000 1 2012 2012
dbSNP: rs6695837
rs6695837
LAMC1
2 0.925 0.080 1 183022327 upstream gene variant T/C snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs6702619
rs6702619
LINC01708
4 0.851 0.200 1 99580690 intron variant T/G snv 0.35 0.010 1.000 1 2019 2019
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.010 1.000 1 2020 2020