TYK2, tyrosine kinase 2, 7297

N. diseases: 172; N. variants: 22
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: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.830 0.857 7 2012 2019
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.810 1.000 4 2010 2018
dbSNP: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.810 1.000 2 2012 2018
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.800 1.000 3 2010 2016
dbSNP: rs2304256
rs2304256 		0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 2 2010 2011
dbSNP: rs2304256
rs2304256 		0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 2 2012 2015
dbSNP: rs280519
rs280519 		0.752 0.320 19 10362257 splice region variant A/C;G snv 0.50
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.800 1.000 1 2010 2010
dbSNP: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.800 1.000 1 2012 2012
dbSNP: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C3898105
Disease: Oligoarticular Juvenile Idiopathic Arthritis
Oligoarticular Juvenile Idiopathic Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs2304256
rs2304256 		0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.770 1.000 9 2009 2019
dbSNP: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.750 0.833 6 2013 2019
dbSNP: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.730 1.000 4 2015 2019
dbSNP: rs34536443
rs34536443 		0.667 0.400 19 10352442 missense variant G/C snv 2.7E-02 2.8E-02
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.730 1.000 4 2010 2019
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 2 2015 2016
dbSNP: rs775578531
rs775578531 		1.000 0.120 19 10353648 splice acceptor variant T/C snv 7.2E-06
CUI: C1969086
Disease: Tyrosine Kinase 2 Deficiency
Tyrosine Kinase 2 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 2 2012 2015
dbSNP: rs11085725
rs11085725 		0.851 0.160 19 10351837 intron variant C/T snv 0.24
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725 		0.851 0.160 19 10351837 intron variant C/T snv 0.24
CUI: C0027121
Disease: Myositis
Myositis 		Musculoskeletal Diseases; Nervous System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725 		0.851 0.160 19 10351837 intron variant C/T snv 0.24
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11085725
rs11085725 		0.851 0.160 19 10351837 intron variant C/T snv 0.24
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11085727
rs11085727 		1.000 0.080 19 10355447 intron variant C/T snv 0.24
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12720356
rs12720356 		0.752 0.360 19 10359299 missense variant A/C;G snv 6.1E-02; 4.0E-06
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2304256
rs2304256 		0.732 0.360 19 10364976 missense variant C/A snv 0.27 0.23
CUI: C1272321
Disease: Autoantibody measurement
Autoantibody measurement 		0.700 1.000 1 2011 2011