rs231775, CTLA4

N. diseases: 115
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Alopecia Areata
CUI: C0002171
Disease: Alopecia Areata
54 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.700 1.000 1 2015 2015
Diabetes Mellitus, Insulin-Dependent
954 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1998 2019
Graves Disease
CUI: C0018213
Disease: Graves Disease
352 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.875 16 1999 2019
Autoimmune Diseases
CUI: C0004364
Disease: Autoimmune Diseases
428 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.100 0.900 10 2002 2018
Hashimoto Disease
CUI: C0677607
Disease: Hashimoto Disease
131 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.090 1.000 9 2001 2019
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.070 0.857 7 2008 2018
Rheumatoid Arthritis
CUI: C0003873
Disease: Rheumatoid Arthritis
2387 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.060 0.833 6 1998 2017
Multiple Sclerosis
CUI: C0026769
Disease: Multiple Sclerosis
1022 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.050 0.600 5 2004 2015
Primary biliary cirrhosis
CUI: C0008312
Disease: Primary biliary cirrhosis
667 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.050 1.000 5 2011 2017
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.050 1.000 5 2009 2018
Autoimmune thyroid disease
CUI: C0178468
Disease: Autoimmune thyroid disease
15 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2002 2009
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
243 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2005 2014
Celiac Disease
CUI: C0007570
Disease: Celiac Disease
263 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 0.667 3 1998 2015
Hepatitis B
CUI: C0019163
Disease: Hepatitis B
519 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2010 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2014 2019
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2012 2019
Osteosarcoma
CUI: C0029463
Disease: Osteosarcoma
178 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 1.000 3 2011 2019
Thyroid associated opthalmopathies
CUI: C0339143
Disease: Thyroid associated opthalmopathies
49 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.030 0.333 3 2003 2008
Aplastic Anemia
CUI: C0002874
Disease: Aplastic Anemia
30 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2005 2016
Breast Carcinoma
CUI: C0678222
Disease: Breast Carcinoma
2793 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2004 2017
Childhood Osteosarcoma
CUI: C1332986
Disease: Childhood Osteosarcoma
151 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2011 2019
Clear-cell metastatic renal cell carcinoma
11 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2015 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2018 2018
Diabetes Mellitus, Non-Insulin-Dependent
2672 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2001 2019
Ewings sarcoma
CUI: C0553580
Disease: Ewings sarcoma
25 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.020 1.000 2 2012 2013