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: 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: rs693482
rs693482 		1 64897943 intron variant A/C snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2005 2005
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: 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: 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
dbSNP: rs3818753
rs3818753 		1.000 0.200 1 64873549 3 prime UTR variant A/G snv 1.0E-02 3.6E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3818753
rs3818753 		1.000 0.200 1 64873549 3 prime UTR variant A/G snv 1.0E-02 3.6E-03
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: rs3818753
rs3818753 		1.000 0.200 1 64873549 3 prime UTR variant A/G snv 1.0E-02 3.6E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs478665
rs478665 		1 65049850 intron variant A/G snv 5.8E-02
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.800 1.000 1 2013 2013
dbSNP: rs478665
rs478665 		1 65049850 intron variant A/G snv 5.8E-02
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.800 1.000 1 2013 2013
dbSNP: rs555038
rs555038 		1 65006640 intron variant A/G snv 0.22
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs705509
rs705509 		1 65066068 intron variant A/G snv 0.38
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
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: 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: rs72920202
rs72920202 		0.882 1 64895266 intron variant A/T snv 0.15
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2019 2019
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: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A 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 4 2009 2011
dbSNP: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 2 2011 2011
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