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: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		0.020 1.000 2 2015 2019
dbSNP: rs16840252
rs16840252
CTLA4
0.776 0.480 2 203866796 upstream gene variant C/T snv 0.16
CUI: C0339143
Disease: Thyroid associated opthalmopathies
Thyroid associated opthalmopathies 		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: 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: 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: 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: 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: 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: 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: 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: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		0.010 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2019 2019
dbSNP: rs3087243
rs3087243
CTLA4
0.623 0.720 2 203874196 downstream gene variant G/A snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs4553808
rs4553808
CTLA4
0.672 0.320 2 203866282 upstream gene variant A/G;T snv 0.16
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1533172
Disease: Infantile nystagmus syndrome
Infantile nystagmus syndrome 		0.010 < 0.001 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0002895
Disease: Anemia, Sickle Cell
Anemia, Sickle Cell 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1636149
Disease: Macular dystrophy, corneal type 1
Macular dystrophy, corneal type 1 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
Nephrotic Syndrome, Minimal Change 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0027721
Disease: Lipoid nephrosis
Lipoid nephrosis 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0017668
Disease: Focal glomerulosclerosis
Focal glomerulosclerosis 		0.010 1.000 1 2019 2019
dbSNP: rs5742909
rs5742909
CTLA4
0.614 0.680 2 203867624 upstream gene variant C/T snv 6.7E-02
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.010 1.000 1 2019 2019