IFNG, interferon gamma, 3458

N. diseases: 1519; N. variants: 11
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: rs771694484
rs771694484 		1.000 12 68157954 missense variant T/C snv 4.0E-05 7.0E-06
CUI: C4016741
Disease: IMMUNODEFICIENCY 32B
IMMUNODEFICIENCY 32B 		0.010 1.000 1 2013 2013
dbSNP: rs2234688
rs2234688 		1.000 0.040 12 68158742 intron variant -/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG delins
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3138557
rs3138557 		0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo 		Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3138557
rs3138557 		0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C1562585
Disease: Leprosy, Multibacillary
Leprosy, Multibacillary 		Infections 0.010 1.000 1 2012 2012
dbSNP: rs3138557
rs3138557 		0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs3138557
rs3138557 		0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C0375023
Disease: Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site 		0.010 1.000 1 2014 2014
dbSNP: rs2069707
rs2069707 		0.925 0.120 12 68160508 intron variant G/A;C snv
CUI: C0031049
Disease: Pericarditis, Tuberculous
Pericarditis, Tuberculous 		Infections; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2069707
rs2069707 		0.925 0.120 12 68160508 intron variant G/A;C snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2015 2015
dbSNP: rs34079299
rs34079299 		0.925 0.200 12 68158715 intron variant TGTGTGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTG;TGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTGTG delins
CUI: C2684859
Disease: APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding)
APLASTIC ANEMIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs34079299
rs34079299 		0.925 0.200 12 68158715 intron variant TGTGTGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTG;TGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTGTG delins
CUI: C2750460
Disease: Tsc2 Angiomyolipomas, Renal, Modifier Of
Tsc2 Angiomyolipomas, Renal, Modifier Of 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Nervous System Diseases 0.700 0
dbSNP: rs1861493
rs1861493 		0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1861493
rs1861493 		0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.010 1.000 1 2016 2016
dbSNP: rs1861493
rs1861493 		0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1861493
rs1861493 		0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal 		Infections; Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0019270
Disease: Hernia
Hernia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2019 2019
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0030193
Disease: Pain
Pain 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		Infections; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		Infections 0.010 1.000 1 2015 2015
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		Infections; Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0150988
Disease: Sclerodactyly
Sclerodactyly 		Skin and Connective Tissue Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2069718
rs2069718 		0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		Infections 0.010 1.000 1 2015 2015