ITGAL, integrin subunit alpha L, 3683

N. diseases: 169; N. variants: 8
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: rs11150589
rs11150589 		1.000 0.040 16 30471173 upstream gene variant T/A;C;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.800 1.000 3 2012 2017
dbSNP: rs11574938
rs11574938 		0.827 0.120 16 30474072 missense variant G/A;C snv 0.62
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs1064524
rs1064524 		1.000 0.040 16 30481502 missense variant C/T snv 3.3E-02 3.3E-02
CUI: C1456145
Disease: Dental caries of smooth surface
Dental caries of smooth surface 		Stomatognathic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs11150589
rs11150589 		1.000 0.040 16 30471173 upstream gene variant T/A;C;G snv
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs11574938
rs11574938 		0.827 0.120 16 30474072 missense variant G/A;C snv 0.62
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11574938
rs11574938 		0.827 0.120 16 30474072 missense variant G/A;C snv 0.62
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11574938
rs11574938 		0.827 0.120 16 30474072 missense variant G/A;C snv 0.62
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11574938
rs11574938 		0.827 0.120 16 30474072 missense variant G/A;C snv 0.62
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11574938
rs11574938 		0.827 0.120 16 30474072 missense variant G/A;C snv 0.62
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12716977
rs12716977 		16 30471482 upstream gene variant T/A;C snv
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7196298
rs7196298 		16 30516951 intron variant C/A snv 6.3E-02 0.11
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs11574944
rs11574944 		1.000 0.200 16 30498669 intron variant C/T snv 0.25
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1389285263
rs1389285263 		1.000 0.080 16 30499144 missense variant G/A snv 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs8058823
rs8058823 		0.925 0.080 16 30522581 3 prime UTR variant A/G snv 3.0E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs8058823
rs8058823 		0.925 0.080 16 30522581 3 prime UTR variant A/G snv 3.0E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2019 2019