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: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.020 1.000 2 2012 2013
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 1.000 2 2004 2017
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.020 1.000 2 2011 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0036690
Disease: Septicemia
Septicemia 		0.020 1.000 2 2018 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 1.000 2 2004 2017
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: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.020 1.000 2 2011 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019100
Disease: Severe Dengue
Severe Dengue 		0.010 < 0.001 1 2018 2018
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C4721555
Disease: Autoimmune hepatitis
Autoimmune hepatitis 		0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1862382
Disease: SVEINSSON CHORIORETINAL ATROPHY
SVEINSSON CHORIORETINAL ATROPHY 		0.010 1.000 1 2013 2013
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: C0004096
Disease: Asthma
Asthma 		0.010 1.000 1 2012 2012
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: 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: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 2020 2020
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0241910
Disease: Autoimmune Chronic Hepatitis
Autoimmune Chronic Hepatitis 		0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		0.010 1.000 1 2015 2015
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid 		0.010 1.000 1 2014 2014
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		0.010 1.000 1 2019 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.010 1.000 1 2017 2017
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0860207
Disease: Drug-Induced Liver Disease
Drug-Induced Liver Disease 		0.010 1.000 1 2012 2012
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0036323
Disease: Schistosomiasis
Schistosomiasis 		0.010 1.000 1 2012 2012