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: 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: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0038522
Disease: Subacute Sclerosing Panencephalitis
Subacute Sclerosing Panencephalitis 		0.010 1.000 1 2007 2007
dbSNP: rs1861493
rs1861493
IFNG ; IFNG-AS1
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		0.010 1.000 1 2008 2008
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2008 2008
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2008 2008
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
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: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2008 2008
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0006060
Disease: Boutonneuse Fever
Boutonneuse Fever 		0.010 1.000 1 2009 2009
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 1.000 1 2010 2010
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 1.000 1 2010 2010
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		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: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		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: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult 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: 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: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		0.010 1.000 1 2010 2010
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.010 1.000 1 2010 2010
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0014060
Disease: Encephalitis, St. Louis
Encephalitis, St. Louis 		0.010 1.000 1 2010 2010
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 0.500 2 2012 2012
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 0.500 2 2012 2012
dbSNP: rs1861493
rs1861493
IFNG ; IFNG-AS1
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2012 2012
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0015967
Disease: Fever
Fever 		0.010 1.000 1 2012 2012