Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2066844
rs2066844 		0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 1.000 0.940 83 2001 2018
dbSNP: rs2066845
rs2066845 		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 		Digestive System Diseases 1.000 0.949 78 2001 2019
dbSNP: rs2066847
rs2066847 		0.716 0.400 16 50729868 frameshift variant C/-;CC delins 1.5E-02
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.890 0.923 13 2005 2019
dbSNP: rs104895462
rs104895462 		0.882 0.120 16 50710911 missense variant C/T snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.880 1.000 14 2001 2015
dbSNP: rs104895461
rs104895461 		0.882 0.120 16 50710912 missense variant G/A;C snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.840 1.000 4 2004 2016
dbSNP: rs2076756
rs2076756 		0.882 0.040 16 50722970 intron variant A/G snv 0.17
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.830 1.000 9 2007 2019
dbSNP: rs5743293
rs5743293 		0.807 0.200 16 50729868 frameshift variant C/-;CC delins
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.830 1.000 8 2007 2017
dbSNP: rs104895477
rs104895477 		0.925 0.120 16 50711058 stop gained G/A;T snv 3.6E-05
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.820 1.000 8 2005 2016
dbSNP: rs2076756
rs2076756 		0.882 0.040 16 50722970 intron variant A/G snv 0.17
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.820 1.000 3 2006 2017
dbSNP: rs104895476
rs104895476 		0.925 0.160 16 50711057 missense variant C/G;T snv 4.8E-05
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.820 1.000 2 2013 2017
dbSNP: rs17221417
rs17221417 		0.925 0.040 16 50705671 intron variant C/G snv 0.20
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.810 1.000 3 2007 2017
dbSNP: rs2066844
rs2066844 		0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.810 1.000 3 2011 2018
dbSNP: rs5743289
rs5743289 		1.000 0.040 16 50722863 intron variant C/G;T snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.810 1.000 3 2007 2014
dbSNP: rs104895460
rs104895460 		0.925 0.080 16 50711316 missense variant C/T snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.810 1.000 1 2009 2009
dbSNP: rs2066845
rs2066845 		0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 0.846 13 2002 2018
dbSNP: rs2066845
rs2066845 		0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C4310620
Disease: Yao syndrome
Yao syndrome 		0.800 1.000 2 2011 2015
dbSNP: rs5743289
rs5743289 		1.000 0.040 16 50722863 intron variant C/G;T snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.800 1.000 1 2008 2008
dbSNP: rs104895472
rs104895472 		1.000 0.080 16 50711398 missense variant A/T snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.800 0
dbSNP: rs104895473
rs104895473 		0.925 0.120 16 50711449 missense variant T/C snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.800 0
dbSNP: rs2066842
rs2066842 		0.763 0.200 16 50710713 missense variant C/A;T snv 4.0E-06; 0.19
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.790 1.000 10 2002 2014
dbSNP: rs2066844
rs2066844 		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 		Digestive System Diseases 0.790 1.000 10 2002 2017
dbSNP: rs2066845
rs2066845 		0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.730 0.750 4 2002 2016
dbSNP: rs104895467
rs104895467 		0.851 0.120 16 50716899 missense variant A/G snv 1.2E-03 7.5E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.720 < 0.001 2 2014 2018
dbSNP: rs104895493
rs104895493 		1.000 0.080 16 50711059 missense variant A/G snv
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.720 1.000 2 2009 2015
dbSNP: rs2066845
rs2066845 		0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.710 1.000 9 2003 2011