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: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0042170
Disease: Uveomeningoencephalitic Syndrome
Uveomeningoencephalitic Syndrome 		0.010 1.000 1 2008 2008
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		0.010 < 0.001 1 2008 2008
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0042166
Disease: Uveitis, Intermediate
Uveitis, Intermediate 		0.010 1.000 1 2008 2008
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1096116
Disease: Acquired haemophilia
Acquired haemophilia 		0.010 1.000 1 2008 2008
dbSNP: rs733618
rs733618
CTLA4
0.763 0.440 2 203866221 upstream gene variant T/C snv 0.10
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 1.000 1 2008 2008
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0178468
Disease: Autoimmune thyroid disease
Autoimmune thyroid disease 		0.030 1.000 3 2002 2009
dbSNP: rs16840252
rs16840252
CTLA4
0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		0.010 1.000 1 2009 2009
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1847835
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)
VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) 		0.010 < 0.001 1 2009 2009
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0042900
Disease: Vitiligo
Vitiligo 		0.010 < 0.001 1 2009 2009
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0271815
Disease: Postpartum Thyroiditis
Postpartum Thyroiditis 		0.010 1.000 1 2009 2009
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0701807
Disease: Acute anterior uveitis
Acute anterior uveitis 		0.010 < 0.001 1 2009 2009
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2009 2009
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1960272
Disease: Latent autoimmune diabetes mellitus in adult
Latent autoimmune diabetes mellitus in adult 		0.010 1.000 1 2009 2009
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1739108
Disease: Latent Autoimmune Diabetes in Adults
Latent Autoimmune Diabetes in Adults 		0.010 1.000 1 2009 2009
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0007097
Disease: Carcinoma
Carcinoma 		0.010 1.000 1 2010 2010
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2010 2010
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 1.000 1 2010 2010
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		0.010 1.000 1 2010 2010
dbSNP: rs35219727
rs35219727
CTLA4
1.000 0.120 2 203869326 intron variant G/A snv 1.1E-03
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.010 1.000 1 2010 2010
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		0.010 1.000 1 2010 2010
dbSNP: rs11571316
rs11571316
CTLA4
0.925 0.160 2 203866366 upstream gene variant G/A;C snv
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.700 1.000 1 2011 2011
dbSNP: rs16840252
rs16840252
CTLA4
0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C0013884
Disease: Filarial Elephantiases
Filarial Elephantiases 		0.010 1.000 1 2011 2011
dbSNP: rs16840252
rs16840252
CTLA4
0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2011 2011
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0017638
Disease: Glioma
Glioma 		0.010 1.000 1 2011 2011
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0018133
Disease: Graft-vs-Host Disease
Graft-vs-Host Disease 		0.010 1.000 1 2011 2011