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: 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: rs4244165
rs4244165 		1.000 0.080 1 64955388 intron variant G/C;T snv
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2012 2012
dbSNP: rs7536540
rs7536540 		0.882 0.160 1 65058899 intron variant C/G;T snv 0.65
CUI: C0023890
Disease: Liver Cirrhosis
Liver Cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs310236
rs310236 		1.000 0.120 1 64868174 non coding transcript exon variant G/C snv 0.39
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs310241
rs310241 		0.882 0.360 1 64837655 intron variant A/G snv 0.37
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		Eye Diseases; Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs310241
rs310241 		0.882 0.360 1 64837655 intron variant A/G snv 0.37
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3790532
rs3790532 		0.925 0.320 1 64837707 intron variant G/A snv 2.3E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
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: rs17127024
rs17127024 		0.925 0.280 1 64837448 intron variant G/T snv 5.1E-02
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2256298
rs2256298 		1.000 0.200 1 64864999 intron variant G/A snv 0.30 0.36
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs310245
rs310245 		1.000 0.200 1 64840499 intron variant C/T snv 0.51
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3818753
rs3818753 		1.000 0.200 1 64873549 3 prime UTR variant A/G snv 1.0E-02 3.6E-03
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Stomatognathic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
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: rs7536540
rs7536540 		0.882 0.160 1 65058899 intron variant C/G;T snv 0.65
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs869312953
rs869312953 		0.851 0.120 1 64846735 missense variant G/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 1 2015 2015
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: 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: rs2780815
rs2780815 		1.000 0.120 1 64835928 intron variant T/C;G snv
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs310216
rs310216 		1.000 0.040 1 64850992 intron variant G/A snv 0.35
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs310241
rs310241 		0.882 0.360 1 64837655 intron variant A/G snv 0.37
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3790532
rs3790532 		0.925 0.320 1 64837707 intron variant G/A snv 2.3E-02
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.010 < 0.001 1 2016 2016
dbSNP: rs578481
rs578481 		1 65063072 intron variant T/C;G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016