JAK2, Janus kinase 2, 3717

N. diseases: 644; N. variants: 54
Disease: Chronic myeloproliferative disorder ×
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: rs77375493
rs77375493 		0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.100 0.974 269 2005 2020
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: 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: rs1057519721
rs1057519721 		0.882 0.120 9 5078360 missense variant 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: rs1057520016
rs1057520016 		0.851 0.080 9 5089726 missense variant C/A;T snv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs121912473
rs121912473 		0.925 0.080 9 5070026 missense variant AA/TT mnv
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
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: 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: rs4495487
rs4495487 		0.925 0.080 9 5072798 intron variant T/C snv 0.23
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs59384377
rs59384377 		1.000 0.080 9 5005034 intron variant A/T snv 0.26
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs764634461
rs764634461 		1.000 0.080 9 5072516 missense variant T/G snv 1.2E-05 2.8E-05
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2018 2018