JAK3, Janus kinase 3, 3718

N. diseases: 194; N. variants: 28
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: rs886039394
rs886039394 		1.000 0.120 19 17837150 missense variant C/T snv
CUI: C1833275
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs768942227
rs768942227 		1.000 0.040 19 17832629 missense variant A/G snv
CUI: C0023470
Disease: Myeloid Leukemia
Myeloid Leukemia 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs758959409
rs758959409 		0.882 0.160 19 17835160 missense variant C/A;T snv 4.0E-06
CUI: C0023501
Disease: Leukemoid Reaction
Leukemoid Reaction 		Hemic and Lymphatic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs758959409
rs758959409 		0.882 0.160 19 17835160 missense variant C/A;T snv 4.0E-06
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs758959409
rs758959409 		0.882 0.160 19 17835160 missense variant C/A;T snv 4.0E-06
CUI: C1834582
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
MYELOPROLIFERATIVE SYNDROME, TRANSIENT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs752661478
rs752661478 		19 17838299 missense variant C/T snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs55778349
rs55778349 		1.000 0.120 19 17843141 missense variant G/C snv 5.9E-03 6.4E-03
CUI: C1833275
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 1.000 5 1995 2004
dbSNP: rs3213409
rs3213409 		0.925 0.040 19 17834887 missense variant C/T snv 8.6E-03 7.3E-03
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3213409
rs3213409 		0.925 0.040 19 17834887 missense variant C/T snv 8.6E-03 7.3E-03
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3213409
rs3213409 		0.925 0.040 19 17834887 missense variant C/T snv 8.6E-03 7.3E-03
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs3212799
rs3212799 		19 17826707 3 prime UTR variant C/T snv 1.0E-02 2.0E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3212780
rs3212780 		1.000 0.040 19 17830033 synonymous variant G/A snv 0.21 0.21
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3212780
rs3212780 		1.000 0.040 19 17830033 synonymous variant G/A snv 0.21 0.21
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2009 2009
dbSNP: rs3212756
rs3212756 		19 17837038 non coding transcript exon variant G/T snv 9.1E-03 4.8E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3212723
rs3212723 		0.925 0.040 19 17843406 missense variant G/T snv 6.2E-03 2.6E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs3212723
rs3212723 		0.925 0.040 19 17843406 missense variant G/T snv 6.2E-03 2.6E-02
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.010 1.000 1 2006 2006
dbSNP: rs201283129
rs201283129 		0.882 0.160 19 17838329 missense variant C/A;G snv 2.0E-05
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias 		Neoplasms 0.700 1.000 1 2008 2008
dbSNP: rs201283129
rs201283129 		0.882 0.160 19 17838329 missense variant C/A;G snv 2.0E-05
CUI: C0023501
Disease: Leukemoid Reaction
Leukemoid Reaction 		Hemic and Lymphatic Diseases 0.700 1.000 1 2008 2008
dbSNP: rs201283129
rs201283129 		0.882 0.160 19 17838329 missense variant C/A;G snv 2.0E-05
CUI: C1834582
Disease: MYELOPROLIFERATIVE SYNDROME, TRANSIENT
MYELOPROLIFERATIVE SYNDROME, TRANSIENT 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs200077579
rs200077579 		1.000 0.040 19 17832681 missense variant G/A snv 2.2E-04 2.5E-04
CUI: C4015214
Disease: CTLA4 Haploinsufficiency
CTLA4 Haploinsufficiency 		Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs199649035
rs199649035 		1.000 0.120 19 17838014 missense variant C/A;T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs199649035
rs199649035 		1.000 0.120 19 17838014 missense variant C/A;T snv 4.0E-06
CUI: C1961099
Disease: Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs193922364
rs193922364 		1.000 0.120 19 17842498 frameshift variant AG/- del 4.7E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs193922362
rs193922362 		1.000 0.120 19 17837148 synonymous variant G/A snv 5.8E-06
CUI: C0085110
Disease: Severe Combined Immunodeficiency
Severe Combined Immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs193922361
rs193922361 		0.925 0.120 19 17837171 missense variant G/A snv
CUI: C1833275
Disease: Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, NK Cell-Negative 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0