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: 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: rs4244165
rs4244165 		1.000 0.080 1 64955388 intron variant G/C;T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs4916008
rs4916008 		1.000 0.080 1 64852824 intron variant C/T snv 0.12
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs578481
rs578481 		1 65063072 intron variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
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: 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: rs7536540
rs7536540 		0.882 0.160 1 65058899 intron variant C/G;T snv 0.65
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs7536540
rs7536540 		0.882 0.160 1 65058899 intron variant C/G;T snv 0.65
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs869312953
rs869312953 		0.851 0.120 1 64846735 missense variant G/T snv
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs869312953
rs869312953 		0.851 0.120 1 64846735 missense variant G/T snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs869312953
rs869312953 		0.851 0.120 1 64846735 missense variant G/T snv
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia 		Neoplasms 0.010 1.000 1 2010 2010
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: 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
dbSNP: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1057519753
rs1057519753 		0.763 0.120 1 64846664 missense variant C/A snv
CUI: C3501854
Disease: Leukemia, Acute, X-Linked
Leukemia, Acute, X-Linked 		Neoplasms 0.700 1.000 1 2009 2009
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: rs151047872
rs151047872 		1.000 0.120 1 64846699 missense variant G/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 1 2012 2012
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