Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
0.763 0.320 12 68154443 intron variant T/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2008 2008
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
0.763 0.320 12 68154443 intron variant T/A;C snv
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
0.763 0.320 12 68154443 intron variant T/A;C snv
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
0.763 0.320 12 68154443 intron variant T/A;C snv
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		0.010 1.000 1 2015 2015
dbSNP: rs2069727
rs2069727
IFNG ; IFNG-AS1
0.763 0.320 12 68154443 intron variant T/A;C snv
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2234688
rs2234688
IFNG ; IFNG-AS1
1.000 0.040 12 68158742 intron variant -/G;TGAG;TGG;TGTGG;TGTGTGAG;TGTGTGG;TGTGTGTGG delins
CUI: C0025281
Disease: Meniere Disease
Meniere Disease 		0.010 1.000 1 2013 2013
dbSNP: rs3138557
rs3138557
IFNG ; IFNG-AS1
0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C1304470
Disease: Generalized vitiligo
Generalized vitiligo 		0.010 1.000 1 2013 2013
dbSNP: rs3138557
rs3138557
IFNG ; IFNG-AS1
0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C1562585
Disease: Leprosy, Multibacillary
Leprosy, Multibacillary 		0.010 1.000 1 2012 2012
dbSNP: rs3138557
rs3138557
IFNG ; IFNG-AS1
0.851 0.080 12 68158711 intron variant CGAG/- delins
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		0.010 1.000 1 2015 2015
dbSNP: rs3138557
rs3138557
IFNG ; IFNG-AS1
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: rs34079299
rs34079299
IFNG ; IFNG-AS1
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
IFNG ; IFNG-AS1
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 		0.700 0
dbSNP: rs771694484
rs771694484
IFNG ; IFNG-AS1
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: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.060 1.000 6 2010 2017
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.020 1.000 2 2013 2017
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0023343
Disease: Leprosy
Leprosy 		0.020 0.500 2 2012 2014
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.020 0.500 2 2012 2019
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0206139
Disease: Lichen Planus, Oral
Lichen Planus, Oral 		0.020 0.500 2 2012 2018
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2014 2014
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.020 1.000 2 2016 2017
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2014 2014
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.010 1.000 1 2016 2016
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0679362
Disease: Tuberculosis, extrapulmonary
Tuberculosis, extrapulmonary 		0.010 1.000 1 2019 2019
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0040561
Disease: Ocular Toxoplasmosis
Ocular Toxoplasmosis 		0.010 1.000 1 2018 2018