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: rs2066845
rs2066845
NOD2
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 1.000 0.949 78 2001 2019
dbSNP: rs4986790
rs4986790
TLR4
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.800 0.895 19 2004 2017
dbSNP: rs1045642
rs1045642
ABCB1
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.100 0.786 14 2005 2017
dbSNP: rs1384936174
rs1384936174
NOD2
6 0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.100 1.000 13 2007 2019
dbSNP: rs2066842
rs2066842
NOD2
15 0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19 0.790 1.000 10 2002 2014
dbSNP: rs10758669
rs10758669 		10 0.763 0.280 9 4981602 upstream gene variant C/A;T snv 0.850 1.000 8 2008 2016
dbSNP: rs2032582
rs2032582
ABCB1
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.080 0.875 8 2005 2017
dbSNP: rs5743293
rs5743293
NOD2
7 0.807 0.200 16 50729868 frameshift variant C/-;CC delins 0.830 1.000 8 2007 2017
dbSNP: rs1248696
rs1248696
DLG5
8 0.807 0.080 10 77856847 missense variant T/A;C snv 0.93 0.070 0.714 7 2006 2016
dbSNP: rs2201841
rs2201841
IL23R ; C1orf141
14 0.716 0.440 1 67228519 intron variant A/G;T snv 0.850 1.000 7 2006 2013
dbSNP: rs5743277
rs5743277
NOD2
2 1.000 0.040 16 50712018 missense variant C/G;T snv 1.2E-05; 3.2E-03 0.710 1.000 7 2001 2016
dbSNP: rs104895427
rs104895427
NOD2
1 1.000 0.040 16 50710842 missense variant C/A;T snv 5.9E-04 0.700 1.000 6 2001 2016
dbSNP: rs212388
rs212388
LOC105378083 ; LOC112267968
8 0.827 0.240 6 159069404 intron variant C/G;T snv 0.810 1.000 6 2010 2017
dbSNP: rs5743276
rs5743276
NOD2
1 1.000 0.040 16 50711961 missense variant C/G;T snv 4.1E-04 0.700 1.000 6 2001 2016
dbSNP: rs901312933
rs901312933
ATG16L1
4 0.882 0.120 2 233282746 missense variant G/A;T snv 0.060 1.000 6 2007 2016
dbSNP: rs1020856343
rs1020856343
SLC22A5
5 0.851 0.240 5 132393705 missense variant C/T snv 4.0E-06 0.050 0.800 5 2006 2012
dbSNP: rs4409764
rs4409764 		3 0.925 0.040 10 99524480 upstream gene variant T/A;G snv 0.820 1.000 5 2010 2019
dbSNP: rs7869487
rs7869487 		3 0.882 0.040 9 114818634 intergenic variant C/G;T snv 0.830 1.000 5 2005 2015
dbSNP: rs11742570
rs11742570 		3 0.925 0.040 5 40410482 upstream gene variant T/C;G snv 0.800 1.000 4 2010 2017
dbSNP: rs1545620
rs1545620
MYO9B
6 0.827 0.080 19 17192965 missense variant T/A;G snv 1.3E-05; 0.52 0.040 0.750 4 2008 2016
dbSNP: rs1805192
rs1805192
PPARG
121 0.510 0.840 3 12379739 missense variant C/G snv 0.040 1.000 4 2008 2012
dbSNP: rs2872507
rs2872507 		12 0.752 0.360 17 39884510 intergenic variant G/A;T snv 0.820 1.000 4 2008 2016
dbSNP: rs540973741
rs540973741
NOD2
2 0.925 0.120 16 50729868 frameshift variant C/-;CC delins 0.700 1.000 4 2007 2012
dbSNP: rs56167332
rs56167332 		7 0.807 0.160 5 159400761 intron variant C/A;T snv 0.700 1.000 4 2015 2019
dbSNP: rs7746082
rs7746082 		5 0.851 0.160 6 105987394 regulatory region variant G/A;C snv 0.810 1.000 4 2008 2017