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: rs34079299
rs34079299
0.925 0.200 12 68158715 intron variant TGTGTGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTG;TGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTG;TGTGTGTGTGTGTGTGTGTGTGTGTG delins
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
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: C0041296
Disease: Tuberculosis
Tuberculosis
Infections 0.060 1.000 6 2010 2017
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
Infections 0.030 1.000 3 2015 2019
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic
Skin and Connective Tissue Diseases; Immune System Diseases 0.020 1.000 2 2010 2016
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.020 1.000 2 2013 2017
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0023343
Disease: Leprosy
Leprosy
Infections 0.020 0.500 2 2012 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis
Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 0.500 2 2012 2019
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral
Skin and Connective Tissue Diseases; Stomatognathic Diseases 0.020 0.500 2 2012 2018
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2014
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract Diseases 0.020 1.000 2 2016 2017
dbSNP: rs2430561
rs2430561
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2014 2014
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: 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: C0155877
Disease: Allergic asthma
Allergic asthma
Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
Infections; Respiratory Tract 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: C0018553
Disease: Hamartoma Syndrome, Multiple
Hamartoma Syndrome, Multiple
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 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