JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
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: rs12343867
rs12343867
0.790 0.200 9 5074189 intron variant T/C snv 0.25
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
Neoplasms; Hemic and Lymphatic Diseases 0.050 1.000 5 2012 2017
dbSNP: rs10974944
rs10974944
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
Neoplasms; Hemic and Lymphatic Diseases 0.040 1.000 4 2009 2014
dbSNP: rs10974944
rs10974944
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.810 1.000 2 2009 2010
dbSNP: rs12342421
rs12342421
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
Neoplasms; Hemic and Lymphatic Diseases 0.020 1.000 2 2013 2014
dbSNP: rs10283564
rs10283564
9 5075628 intron variant C/G snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2016 2016
dbSNP: rs10283564
rs10283564
9 5075628 intron variant C/G snv 0.23
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test)
0.700 1.000 1 2016 2016
dbSNP: rs10815144
rs10815144
0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs10815144
rs10815144
0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C4048328
Disease: cervical cancer
cervical cancer
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs10815144
rs10815144
0.882 0.080 9 5010192 intron variant G/A snv 0.62
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2014 2014
dbSNP: rs10815148
rs10815148
0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10815148
rs10815148
0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10815148
rs10815148
0.882 0.080 9 5057284 intron variant T/A snv 0.33
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10974944
rs10974944
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10974944
rs10974944
0.882 0.160 9 5070831 intron variant C/G snv 0.25
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs10974947
rs10974947
0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947
0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs10974947
rs10974947
0.882 0.080 9 5072846 intron variant G/A snv 0.23
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1159782
rs1159782
1.000 0.040 9 5078117 intron variant T/C snv 0.23
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12339666
rs12339666
0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12339666
rs12339666
0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12339666
rs12339666
0.925 0.080 9 5063296 intron variant G/T snv 0.34
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12340895
rs12340895
1.000 0.080 9 5076691 intron variant C/A;G snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12342421
rs12342421
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0001815
Disease: Primary Myelofibrosis
Primary Myelofibrosis
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs12342421
rs12342421
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2019 2019
dbSNP: rs12342421
rs12342421
0.851 0.080 9 5065750 intron variant G/C snv 0.23
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008