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: 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: rs1384936174
rs1384936174 		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 		Digestive System Diseases 0.100 1.000 13 2007 2019
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: rs2066844
rs2066844 		0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C1861303
Disease: SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder)
SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES (disorder) 		Eye Diseases; Musculoskeletal Diseases 0.700 1.000 12 2001 2013
dbSNP: rs2066844
rs2066844 		0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 12 2001 2013
dbSNP: rs771184127
rs771184127 		0.790 0.200 16 50710807 missense variant G/A snv 1.2E-05 2.1E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.100 0.917 12 2004 2017
dbSNP: rs2066845
rs2066845 		0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.100 1.000 11 2002 2017
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: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.100 0.900 10 2002 2015
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: 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
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: rs104895462
rs104895462 		0.882 0.120 16 50710911 missense variant C/T snv
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 8 2001 2015
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: rs104895477
rs104895477 		0.925 0.120 16 50711058 stop gained G/A;T snv 3.6E-05
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 8 2005 2016
dbSNP: rs2066845
rs2066845 		0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 1.000 8 2003 2011
dbSNP: rs2066844
rs2066844 		0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.070 0.857 7 2005 2014
dbSNP: rs5743272
rs5743272 		1.000 0.040 16 50710966 missense variant A/G snv 9.6E-04 3.8E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.710 1.000 7 2001 2018
dbSNP: rs5743277
rs5743277 		1.000 0.040 16 50712018 missense variant C/G;T snv 1.2E-05; 3.2E-03
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.710 1.000 7 2001 2016
dbSNP: rs104895420
rs104895420 		1.000 0.040 16 50699883 missense variant T/C snv 1.3E-04 5.6E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 6 2001 2016
dbSNP: rs104895422
rs104895422 		1.000 0.040 16 50710614 missense variant C/T snv 1.0E-04 1.3E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 6 2001 2016
dbSNP: rs104895423
rs104895423 		1.000 0.040 16 50710654 missense variant T/G snv 5.6E-04 2.6E-04
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 6 2001 2016
dbSNP: rs104895424
rs104895424 		1.000 0.040 16 50710782 missense variant G/A snv 8.0E-06 2.1E-05
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 6 2001 2016