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: rs12301088
rs12301088
IFNG-AS1
0.882 0.080 12 68196168 intron variant C/T snv 0.37
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2016 2016
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 1.000 1 2017 2017
dbSNP: rs12301088
rs12301088
IFNG-AS1
0.882 0.080 12 68196168 intron variant C/T snv 0.37
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2016 2016
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 1.000 1 2017 2017
dbSNP: rs11614178
rs11614178
IFNG-AS1 ; LOC107984526
0.827 0.120 12 68114342 intron variant G/A;T snv 0.26
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 2 2016 2017
dbSNP: rs1558744
rs1558744
IFNG-AS1 ; LOC107984526
0.925 0.120 12 68110812 intron variant G/A snv 0.41
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.800 1.000 2 2009 2010
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2014 2014
dbSNP: rs2430561
rs2430561
IFNG ; IFNG-AS1
0.590 0.760 12 68158742 intron variant T/A snv 0.36
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2014 2014
dbSNP: rs2870946
rs2870946
IL26 ; IFNG-AS1 ; LOC105369818
1.000 0.040 12 68202881 intron variant T/C snv 7.0E-02
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.800 1.000 1 2009 2009
dbSNP: rs7134472
rs7134472
IFNG-AS1 ; LOC107984526
1.000 0.040 12 68106206 intron variant G/A snv 0.32
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.700 1.000 1 2015 2015
dbSNP: rs7134599
rs7134599
IFNG-AS1 ; LOC107984526
1.000 0.040 12 68106295 intron variant G/A snv 0.32
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.800 1.000 1 2011 2011
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: 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: 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: 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: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary 		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: C0041296
Disease: Tuberculosis
Tuberculosis 		0.060 1.000 6 2010 2017
dbSNP: rs1861494
rs1861494
IFNG ; IFNG-AS1
0.716 0.400 12 68157629 intron variant C/T snv 0.75
CUI: C0041296
Disease: Tuberculosis
Tuberculosis 		0.030 1.000 3 2015 2019
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: 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: C4290046
Disease: trachomatis
trachomatis 		0.010 1.000 1 2015 2015
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0333307
Disease: Superficial ulcer
Superficial ulcer 		0.010 1.000 1 2020 2020
dbSNP: rs2069705
rs2069705
IFNG ; IFNG-AS1
0.695 0.440 12 68161231 intron variant G/A;C snv
CUI: C0038644
Disease: Sudden infant death syndrome
Sudden infant death syndrome 		0.010 1.000 1 2019 2019