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: rs3808850
rs3808850
0.925 0.080 9 4983311 upstream gene variant T/A;C snv
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs3808850
rs3808850
0.925 0.080 9 4983311 upstream gene variant T/A;C snv
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1887428
rs1887428
1.000 0.080 9 4984530 5 prime UTR variant G/C;T snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1887428
rs1887428
1.000 0.080 9 4984530 5 prime UTR variant G/C;T snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2019 2019
dbSNP: rs2274471
rs2274471
1.000 0.040 9 4985879 intron variant A/G snv 0.21
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7849191
rs7849191
0.882 0.120 9 4988761 intron variant C/T snv 0.50
CUI: C0033860
Disease: Psoriasis
Psoriasis
Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7849191
rs7849191
0.882 0.120 9 4988761 intron variant C/T snv 0.50
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X
Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs7849191
rs7849191
0.882 0.120 9 4988761 intron variant C/T snv 0.50
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.700 1.000 1 2008 2008
dbSNP: rs4372063
rs4372063
1.000 0.080 9 5003338 intron variant G/A;C snv
CUI: C1328504
Disease: Hormone refractory prostate cancer
Hormone refractory prostate cancer
Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2017 2017
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: 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: rs7046736
rs7046736
0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0032463
Disease: Polycythemia Vera
Polycythemia Vera
Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs7046736
rs7046736
0.925 0.080 9 5015732 intron variant C/A snv 0.39
CUI: C0040028
Disease: Thrombocythemia, Essential
Thrombocythemia, Essential
Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs759031245
rs759031245
1.000 0.040 9 5022025 missense variant G/T snv 5.2E-05
CUI: C0025202
Disease: melanoma
melanoma
Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs62541534
rs62541534
9 5028921 intron variant C/G snv 0.23
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure
0.700 1.000 1 2019 2019
dbSNP: rs58788809
rs58788809
9 5038597 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT delins
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs56118985
rs56118985
0.882 0.080 9 5044432 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs56118985
rs56118985
0.882 0.080 9 5044432 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs56118985
rs56118985
0.882 0.080 9 5044432 missense variant G/A;C snv 1.8E-03; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1319313254
rs1319313254
9 5050807 missense variant C/T snv 4.0E-06
CUI: C0027022
Disease: Myeloproliferative disease
Myeloproliferative disease
Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1392759936
rs1392759936
1.000 0.040 9 5054778 missense variant G/A snv 7.0E-06
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute
Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs771912975
rs771912975
1.000 0.040 9 5055750 stop gained C/A;G;T snv 4.0E-06; 1.6E-05
CUI: C0032461
Disease: Polycythemia
Polycythemia
Hemic and Lymphatic Diseases 0.010 1.000 1 2013 2013
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