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: rs72920202
rs72920202 		0.882 1 64895266 intron variant A/T snv 0.15
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs72920202
rs72920202 		0.882 1 64895266 intron variant A/T snv 0.15
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs72920202
rs72920202 		0.882 1 64895266 intron variant A/T snv 0.15
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs869312953
rs869312953 		0.851 0.120 1 64846735 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
dbSNP: rs869312953
rs869312953 		0.851 0.120 1 64846735 missense variant G/T snv
CUI: C1855472
Disease: Acute lymphoblastic leukemia with lymphomatous features
Acute lymphoblastic leukemia with lymphomatous features 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 1.000 1 2010 2010
dbSNP: rs9128
rs9128 		1 64833288 3 prime UTR variant C/T snv 7.6E-03
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
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: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C0023487
Disease: Acute Promyelocytic Leukemia
Acute Promyelocytic Leukemia 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2011 2011
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: rs112395617
rs112395617 		1.000 0.080 1 64833868 3 prime UTR variant -/TTAA;TTAATTAA delins
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
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: rs2780889
rs2780889 		1 64833108 3 prime UTR variant A/T snv 0.52
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.010 1.000 1 2012 2012
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: 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: rs310236
rs310236 		1.000 0.120 1 64868174 non coding transcript exon variant G/C snv 0.39
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013