Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2066844
rs2066844
NOD2
0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.940 83 2001 2018
dbSNP: rs2066845
rs2066845
NOD2
0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		1.000 0.949 78 2001 2019
dbSNP: rs2241880
rs2241880
ATG16L1 ; SCARNA5
0.627 0.600 2 233274722 missense variant A/G snv 0.45 0.44
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 0.961 51 2007 2020
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.900 0.944 36 2006 2020
dbSNP: rs4986790
rs4986790
TLR4
0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.800 0.895 19 2004 2017
dbSNP: rs1045642
rs1045642
ABCB1
0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 0.786 14 2005 2017
dbSNP: rs4986791
rs4986791
TLR4
0.456 0.840 9 117713324 missense variant C/T snv 5.7E-02 4.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 0.929 14 2005 2018
dbSNP: rs1384936174
rs1384936174
NOD2
0.827 0.040 16 50710812 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 1.000 13 2007 2019
dbSNP: rs1050152
rs1050152
SLC22A4 ; MIR3936HG
0.776 0.480 5 132340627 missense variant C/T snv 0.29 0.28
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.800 0.917 12 2006 2017
dbSNP: rs2542151
rs2542151 		0.763 0.480 18 12779948 upstream gene variant G/T snv 0.83
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.880 1.000 12 2007 2016
dbSNP: rs771184127
rs771184127
NOD2
0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.100 0.917 12 2004 2017
dbSNP: rs7517847
rs7517847
IL23R ; C1orf141
0.689 0.600 1 67215986 intron variant T/G snv 0.37
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.880 1.000 11 2007 2019
dbSNP: rs2066842
rs2066842
NOD2
0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.790 1.000 10 2002 2014
dbSNP: rs2476601
rs2476601
PTPN22 ; AP4B1-AS1
0.498 0.800 1 113834946 missense variant A/G snv 0.93 0.93
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 0.800 10 2005 2016
dbSNP: rs1893217
rs1893217
PTPN2
0.742 0.440 18 12809341 intron variant A/G snv 0.12
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.850 1.000 9 2008 2016
dbSNP: rs2076756
rs2076756
NOD2
0.882 0.040 16 50722970 intron variant A/G snv 0.17
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.830 1.000 9 2007 2019
dbSNP: rs1004819
rs1004819
IL23R ; C1orf141
0.776 0.360 1 67204530 intron variant G/A snv 0.30
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.860 1.000 8 2006 2019
dbSNP: rs10758669
rs10758669 		0.763 0.280 9 4981602 upstream gene variant C/A;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.850 1.000 8 2008 2016
dbSNP: rs2032582
rs2032582
ABCB1
0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.080 0.875 8 2005 2017
dbSNP: rs3024505
rs3024505 		0.790 0.320 1 206766559 upstream gene variant G/A snv 0.11
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.850 0.875 8 2008 2017
dbSNP: rs3197999
rs3197999
APEH ; MST1
0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.830 1.000 8 2008 2017
dbSNP: rs4958847
rs4958847
IRGM
0.807 0.120 5 150860025 intron variant G/A snv 0.25
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.080 0.875 8 2008 2020
dbSNP: rs6478108
rs6478108
TNFSF15
0.763 0.200 9 114796423 intron variant C/T snv 0.73
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.760 1.000 8 2005 2018
dbSNP: rs744166
rs744166
STAT3
0.689 0.560 17 42362183 intron variant A/G snv 0.48
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.870 1.000 8 2008 2016
dbSNP: rs10065172
rs10065172
IRGM
0.790 0.200 5 150848436 synonymous variant C/T snv 0.17 0.21
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		0.070 0.857 7 2011 2014