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: rs2069727
rs2069727 		0.763 0.320 12 68154443 intron variant T/A;C snv
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C4290046
Disease: trachomatis
trachomatis 		0.010 1.000 1 2015 2015
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2018 2018
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: 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: 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: rs1861494
rs1861494 		0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0038443
Disease: Stress, Psychological
Stress, Psychological 		Behavior and Behavior Mechanisms 0.010 1.000 1 2015 2015
dbSNP: rs2069705
rs2069705 		0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
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: rs1861494
rs1861494 		0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.010 1.000 1 2014 2014
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: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1861494
rs1861494 		0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494 		0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494 		0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1861494
rs1861494 		0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2016 2016
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: rs2430561
rs2430561 		0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016