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: 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: rs1057519753
rs1057519753
0.763 0.120 1 64846664 missense variant C/A snv
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
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
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: rs3818753
rs3818753
1.000 0.200 1 64873549 3 prime UTR variant A/G snv 1.0E-02 3.6E-03
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: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs4916009
rs4916009
1 64905735 intron variant C/T snv 5.6E-02
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
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: 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: 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