Source: GWASCAT

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: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.790 1.000 1 2002 2017
dbSNP: rs11209026
rs11209026
IL23R
0.597 0.680 1 67240275 missense variant G/A snv 4.2E-02 4.6E-02
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.900 0.773 2 2006 2020
dbSNP: rs2076756
rs2076756
NOD2
0.882 0.040 16 50722970 intron variant A/G snv 0.17
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.820 1.000 1 2006 2017
dbSNP: rs2836878
rs2836878 		0.851 0.200 21 39093608 intergenic variant G/A snv 0.23
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2008 2017
dbSNP: rs3197999
rs3197999
APEH ; MST1
0.732 0.280 3 49684099 missense variant G/A snv 0.26 0.27
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.850 1.000 2 2008 2017
dbSNP: rs2315008
rs2315008
ZGPAT
0.925 0.120 20 63712604 intron variant T/G snv 0.70
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 1 2008 2008
dbSNP: rs477515
rs477515
HLA-DRB1
0.790 0.400 6 32601914 intergenic variant G/A snv 0.27
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 1 2008 2008
dbSNP: rs5743289
rs5743289
NOD2
1.000 0.040 16 50722863 intron variant C/G;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 1 2008 2008
dbSNP: rs6478109
rs6478109
TNFSF15
0.752 0.320 9 114806486 upstream gene variant A/G snv 0.74
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 1 2008 2008
dbSNP: rs917997
rs917997 		0.701 0.480 2 102454108 downstream gene variant T/A;C snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.810 1.000 1 2008 2012
dbSNP: rs1250550
rs1250550
ZMIZ1
0.851 0.240 10 79300560 intron variant C/A snv 0.27
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.810 1.000 2 2009 2017
dbSNP: rs10500264
rs10500264 		1.000 0.080 19 33259408 intergenic variant G/A snv 0.14
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.820 1.000 1 2009 2019
dbSNP: rs2412973
rs2412973
HORMAD2
1.000 0.080 22 30133642 intron variant C/A snv 0.54
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.810 1.000 1 2009 2009
dbSNP: rs4676410
rs4676410
GPR35
0.716 0.240 2 240624322 intron variant G/A snv 0.26
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.710 1.000 1 2009 2015
dbSNP: rs8049439
rs8049439
ATXN2L
0.925 0.120 16 28826194 intron variant T/C;G snv 0.38
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.810 1.000 1 2009 2009
dbSNP: rs10761659
rs10761659 		0.925 0.040 10 62685804 intron variant A/G snv 0.43
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs12103
rs12103
INTS11 ; PUSL1 ; MIR6727
0.925 0.040 1 1312114 synonymous variant T/A;C;G snv 0.56
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs12942547
rs12942547
STAT3
0.807 0.200 17 42375526 intron variant A/G;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs12946510
rs12946510 		0.851 0.160 17 39756124 downstream gene variant C/T snv 0.37
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs1363907
rs1363907
ERAP1 ; ERAP2
1.000 0.040 5 96917099 intron variant G/A snv 0.38
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs1456896
rs1456896 		0.882 0.200 7 50264865 upstream gene variant C/T snv 0.67
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs17119
rs17119
LOC101928354
0.882 0.120 6 14719265 intron variant G/A snv 0.74
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs17293632
rs17293632
SMAD3
0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs17694108
rs17694108 		0.925 0.040 19 33240645 regulatory region variant G/A snv 0.22
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017
dbSNP: rs1801274
rs1801274
FCGR2A
0.597 0.800 1 161509955 missense variant A/C;G snv 4.0E-06; 0.48
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.800 1.000 3 2012 2017