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: 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: 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: rs2069707
rs2069707
IFNG ; IFNG-AS1
0.925 0.120 12 68160508 intron variant G/A;C snv
CUI: C0031049
Disease: Pericarditis, Tuberculous
Pericarditis, Tuberculous 		0.010 1.000 1 2018 2018
dbSNP: rs2069707
rs2069707
IFNG ; IFNG-AS1
0.925 0.120 12 68160508 intron variant G/A;C snv
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.010 1.000 1 2015 2015
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: 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: rs1861493
rs1861493
IFNG ; IFNG-AS1
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C1842937
Disease: AURAL ATRESIA, CONGENITAL
AURAL ATRESIA, CONGENITAL 		0.010 1.000 1 2016 2016
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: rs1861493
rs1861493
IFNG ; IFNG-AS1
0.851 0.280 12 68157416 intron variant G/A snv 0.76
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0041330
Disease: Tuberculosis, Spinal
Tuberculosis, Spinal 		0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0019270
Disease: Hernia
Hernia 		0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
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 		0.010 1.000 1 2019 2019
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0030193
Disease: Pain
Pain 		0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm 		0.010 1.000 1 2015 2015
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		0.010 1.000 1 2017 2017
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.010 1.000 1 2015 2015
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: 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: C0150988
Disease: Sclerodactyly
Sclerodactyly 		0.010 1.000 1 2019 2019
dbSNP: rs2069718
rs2069718
IFNG ; IFNG-AS1
0.742 0.320 12 68156382 intron variant A/G;T snv 0.50
CUI: C2747816
Disease: Complicated malaria
Complicated malaria 		0.010 1.000 1 2015 2015