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.
Bullous Dermatitis
CUI: C0085932
Disease: Bullous Dermatitis
1 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2000 2000
Pemphigoid, Benign Mucous Membrane
CUI: C0030804
Disease: Pemphigoid, Benign Mucous Membrane
1 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2000 2000
Postpartum Thyroiditis
CUI: C0271815
Disease: Postpartum Thyroiditis
1 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2009 2009
Acquired haemophilia
CUI: C1096116
Disease: Acquired haemophilia
2 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2008 2008
EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
CUI: C1876181
Disease: EXTERNAL AUDITORY CANAL, BILATERAL ATRESIA OF, WITH CONGENITAL VERTICAL TALUS
2 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2013 2013
Lipoid nephrosis
CUI: C0027721
Disease: Lipoid nephrosis
3 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
Rasmussen Syndrome
CUI: C0393484
Disease: Rasmussen Syndrome
3 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2013 2013
AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
CUI: C1845052
Disease: AMELOGENESIS IMPERFECTA, HYPOPLASTIC/HYPOMATURATION, X-LINKED 1
4 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2015 2015
Bone Sarcoma
CUI: C1704327
Disease: Bone Sarcoma
4 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2015 2015
Schistosomiasis
CUI: C0036323
Disease: Schistosomiasis
4 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2012 2012
Viral hepatitis
CUI: C0042721
Disease: Viral hepatitis
5 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
Adenocarcinoma, Clear Cell
CUI: C0206681
Disease: Adenocarcinoma, Clear Cell
6 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014
Infantile nystagmus syndrome
CUI: C1533172
Disease: Infantile nystagmus syndrome
8 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
Immunosuppression
CUI: C4048329
Disease: Immunosuppression
9 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2005 2005
Nephrotic Syndrome, Minimal Change
CUI: C1704321
Disease: Nephrotic Syndrome, Minimal Change
10 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2019 2019
Uveitis, Intermediate
CUI: C0042166
Disease: Uveitis, Intermediate
10 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2008 2008
Clear-cell metastatic renal cell carcinoma
CUI: C2931852
Disease: 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
Bullous pemphigoid
CUI: C0030805
Disease: Bullous pemphigoid
11 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2000 2000
Urticaria
CUI: C0042109
Disease: Urticaria
11 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2015 2015
Carcinoma, Endometrioid
CUI: C0206687
Disease: Carcinoma, Endometrioid
12 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014
Latent autoimmune diabetes mellitus in adult
CUI: C1960272
Disease: Latent autoimmune diabetes mellitus in adult
12 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2014 2014
Nodular Goiter
CUI: C0018023
Disease: Nodular Goiter
12 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2017 2017
Disorder of eye
CUI: C0015397
Disease: Disorder of eye
14 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2003 2003
Thyroid Gland Follicular Adenoma
CUI: C0151468
Disease: Thyroid Gland Follicular Adenoma
14 0.504 0.720 2 203867991 missense variant A/G;T snv 0.42; 4.0E-06 0.010 1.000 1 2017 2017
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