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: rs36053993
rs36053993
MUTYH
31 0.677 0.280 1 45331556 missense variant C/T snv 3.0E-03 3.3E-03 0.030 0.667 3 2009 2019
dbSNP: rs3738414
rs3738414
VTCN1
2 0.925 0.080 1 117210906 5 prime UTR variant G/A;T snv 3.8E-02 0.030 1.000 3 2009 2015
dbSNP: rs5277
rs5277
PTGS2 ; PACERR
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.030 0.667 3 2010 2015
dbSNP: rs763110
rs763110
FASLG
30 0.653 0.560 1 172658358 upstream gene variant C/T snv 0.49 0.030 1.000 3 2013 2016
dbSNP: rs1012477
rs1012477
PER3
8 0.827 0.160 1 7798075 intron variant G/C snv 0.16 0.020 1.000 2 2013 2017
dbSNP: rs10801935
rs10801935
VTCN1
2 0.925 0.080 1 117179265 intron variant C/A;G snv 0.020 1.000 2 2009 2015
dbSNP: rs12048493
rs12048493
OTUD7B
1 1.000 0.080 1 149955122 intron variant A/C snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs12405132
rs12405132
RNF115
3 0.882 0.200 1 145790097 intron variant G/A snv 0.29 0.700 1.000 2 2015 2017
dbSNP: rs172378
rs172378
C1QA
11 0.790 0.240 1 22638945 synonymous variant A/G snv 0.49 0.51 0.020 < 0.001 2 2006 2010
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.020 1.000 2 2016 2019
dbSNP: rs34612342
rs34612342
MUTYH
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.020 0.500 2 2009 2019
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 0.020 1.000 2 2013 2016
dbSNP: rs6427202
rs6427202
F5
3 0.925 0.080 1 169559592 intron variant C/A;T snv 0.020 1.000 2 2014 2018
dbSNP: rs6678914
rs6678914
LGR6
3 0.882 0.080 1 202218048 intron variant G/A snv 0.37 0.710 1.000 2 2013 2016
dbSNP: rs699
rs699
AGT
134 0.501 0.800 1 230710048 missense variant A/G snv 0.55 0.58 0.020 1.000 2 2011 2011
dbSNP: rs72755295
rs72755295
EXO1
3 1.000 0.080 1 241870961 intron variant A/G snv 2.1E-02 0.700 1.000 2 2015 2017
dbSNP: rs9332542
rs9332542
F5
3 0.925 0.080 1 169570045 intron variant G/A snv 0.27 0.020 1.000 2 2014 2018
dbSNP: rs1039659576
rs1039659576
MTR
21 0.689 0.520 1 236803473 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs1047840
rs1047840
EXO1
19 0.708 0.280 1 241878999 missense variant G/A snv 0.36 0.40 0.010 1.000 1 2009 2009
dbSNP: rs1057941
rs1057941
GBAP1
18 0.701 0.280 1 155216951 non coding transcript exon variant G/A;T snv 0.46 0.700 1.000 1 2016 2016
dbSNP: rs1061217
rs1061217
SLAMF1
3 0.882 0.080 1 160610225 3 prime UTR variant A/C;G snv 0.010 1.000 1 2017 2017
dbSNP: rs1061622
rs1061622
TNFRSF1B
33 0.633 0.760 1 12192898 missense variant T/G snv 0.22 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1061624
rs1061624
TNFRSF1B
8 0.776 0.320 1 12207208 3 prime UTR variant A/G snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs10754339
rs10754339
VTCN1
3 0.882 0.120 1 117147650 3 prime UTR variant G/A snv 0.88 0.76 0.010 1.000 1 2009 2009
dbSNP: rs10796944
rs10796944
ASH1L
1 1.000 0.080 1 155446537 intron variant G/A;T snv 0.700 1.000 1 2017 2017