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: 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: C0041408
Disease: Turner Syndrome
Turner Syndrome 		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: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.100 0.875 16 1998 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0018213
Disease: Graves Disease
Graves Disease 		0.100 0.875 16 1999 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		0.090 1.000 9 2001 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		0.030 1.000 3 2012 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.030 1.000 3 2014 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.030 1.000 3 2010 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.030 1.000 3 2011 2019
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: 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: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2001 2019
dbSNP: rs231775
rs231775
CTLA4
0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06
CUI: C0243026
Disease: Sepsis
Sepsis 		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: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		0.020 0.500 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: C0042721
Disease: Viral hepatitis
Viral hepatitis 		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: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		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: 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: 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: C3840565
Disease: Autoimmune thyroid disease (AITD)
Autoimmune thyroid disease (AITD) 		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: C0085669
Disease: Acute leukemia
Acute leukemia 		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: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		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: C0027721
Disease: Lipoid nephrosis
Lipoid nephrosis 		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: C3496337
Disease: Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic Syndrome 		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: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		0.100 0.900 10 2002 2018