JAK1, Janus kinase 1, 3716

N. diseases: 239; N. variants: 41
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: rs7536540
rs7536540 		0.882 0.160 1 65058899 intron variant C/G;T snv 0.65
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2012 2017
dbSNP: rs114269697
rs114269697 		1.000 0.040 1 64848529 intron variant C/A snv 7.3E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 2 2016 2019
dbSNP: rs10789166
rs10789166 		1.000 0.080 1 64847130 intron variant A/G snv 0.22
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs11208534
rs11208534 		1.000 0.040 1 64877383 intron variant A/G snv 0.16
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11208552
rs11208552 		1 64947147 intron variant G/A;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs114269697
rs114269697 		1.000 0.040 1 64848529 intron variant C/A snv 7.3E-03
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs114269697
rs114269697 		1.000 0.040 1 64848529 intron variant C/A snv 7.3E-03
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs12408934
rs12408934 		1 64957764 intron variant G/A snv 6.1E-02
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs12408934
rs12408934 		1 64957764 intron variant G/A snv 6.1E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs17127024
rs17127024 		0.925 0.280 1 64837448 intron variant G/T snv 5.1E-02
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: rs17127024
rs17127024 		0.925 0.280 1 64837448 intron variant G/T snv 5.1E-02
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs17127114
rs17127114 		1.000 0.080 1 64870148 intron variant G/A snv 0.14
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2256298
rs2256298 		1.000 0.200 1 64864999 intron variant G/A snv 0.30 0.36
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: rs2780815
rs2780815 		1.000 0.120 1 64835928 intron variant T/C;G snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs2780831
rs2780831 		1.000 0.040 1 64880504 intron variant C/T snv 0.35
CUI: C0019100
Disease: Severe Dengue
Severe Dengue 		Infections 0.010 < 0.001 1 2018 2018
dbSNP: rs2780885
rs2780885 		1.000 0.080 1 64865689 intron variant C/T snv 0.35
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2780895
rs2780895 		1.000 0.080 1 64843717 intron variant C/T snv 0.36
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2780902
rs2780902 		1.000 0.120 1 64863417 intron variant C/T snv 0.35
CUI: C0011881
Disease: Diabetic Nephropathy
Diabetic Nephropathy 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs310199
rs310199 		1.000 0.040 1 64884439 intron variant A/G snv 0.43
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs310201
rs310201 		1.000 0.040 1 64883925 intron variant A/G snv 0.37
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs310202
rs310202 		1.000 0.040 1 64883861 intron variant A/G;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs310216
rs310216 		1.000 0.040 1 64850992 intron variant G/A snv 0.35
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs310241
rs310241 		0.882 0.360 1 64837655 intron variant A/G snv 0.37
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs310241
rs310241 		0.882 0.360 1 64837655 intron variant A/G snv 0.37
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 2013 2013
dbSNP: rs310241
rs310241 		0.882 0.360 1 64837655 intron variant A/G snv 0.37
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016