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: 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: C3501854
Disease: Leukemia, Acute, X-Linked
Leukemia, Acute, X-Linked 		Neoplasms 0.700 1.000 1 2009 2009
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: 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: 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: 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: 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: 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: 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
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: 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: rs3790541
rs3790541 		1.000 0.040 1 64875884 3 prime UTR variant C/T snv 0.15
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
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: 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