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: C0002874
Disease: Aplastic Anemia
Aplastic Anemia 		0.020 1.000 2 2005 2016
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: rs370443546
rs370443546
CTLA4
1.000 0.120 2 203870744 missense variant A/G snv 4.0E-06 2.8E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.020 1.000 2 2006 2007
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: C0524909
Disease: Hepatitis B, Chronic
Hepatitis B, Chronic 		0.010 1.000 1 2006 2006
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.860 0.800 10 2007 2019
dbSNP: rs1207011218
rs1207011218
CTLA4
0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C1827849
Disease: IgE-mediated allergic asthma
IgE-mediated allergic asthma 		0.010 1.000 1 2007 2007
dbSNP: rs1207011218
rs1207011218
CTLA4
0.742 0.440 2 203870794 synonymous variant C/T snv
CUI: C0155877
Disease: Allergic asthma
Allergic asthma 		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: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2007 2007
dbSNP: rs765325921
rs765325921
CTLA4
1.000 0.120 2 203870635 synonymous variant C/T snv 4.0E-06
CUI: C0205734
Disease: Diabetes, Autoimmune
Diabetes, Autoimmune 		0.010 1.000 1 2007 2007
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		0.850 0.818 11 2008 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.070 0.857 7 2008 2018
dbSNP: rs1205829960
rs1205829960
CTLA4
0.925 0.160 2 203872753 missense variant C/G snv 7.0E-06
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.050 1.000 5 2009 2018
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		0.030 1.000 3 2009 2014
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