Source: BEFREE

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: C0030804
Disease: Pemphigoid, Benign Mucous Membrane
Pemphigoid, Benign Mucous Membrane 		0.010 1.000 1 2000 2000
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0085932
Disease: Bullous Dermatitis
Bullous Dermatitis 		0.010 1.000 1 2000 2000
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0030805
Disease: Bullous pemphigoid
Bullous pemphigoid 		0.010 1.000 1 2000 2000
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.010 1.000 1 2003 2003
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0023896
Disease: Alcoholic Liver Diseases
Alcoholic Liver Diseases 		0.010 1.000 1 2004 2004
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0162309
Disease: Adrenoleukodystrophy
Adrenoleukodystrophy 		0.010 1.000 1 2004 2004
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C4048329
Disease: Immunosuppression
Immunosuppression 		0.010 1.000 1 2005 2005
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0040021
Disease: Thromboangiitis Obliterans
Thromboangiitis Obliterans 		0.010 < 0.001 1 2005 2005
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		0.010 1.000 1 2006 2006
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 1.000 1 2006 2006
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2007 2007
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		0.030 0.333 3 2003 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: 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: 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: C0019069
Disease: Hemophilia A
Hemophilia A 		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: 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: 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: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		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