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: 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: 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: 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: 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: 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: 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: C0032463
Disease: Polycythemia Vera
Polycythemia Vera 		Neoplasms; Hemic and Lymphatic Diseases 0.700 1.000 1 2005 2005
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs56818621
rs56818621 		1.000 0.040 1 64969742 intron variant C/G snv 0.18
CUI: C0020676
Disease: Hypothyroidism
Hypothyroidism 		Endocrine System Diseases 0.700 1.000 1 2019 2019
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