rs733618

minus

Geno	Mag	Summary
(A;A)	0	normal
(A;G)	1.8	1.87x risk for myasthenia gravis
(G;G)		normal
(T;T)	0

Reference

GRCh38 38.1/141

Chromosome

2

Position

203866221

Gene

CTLA4

is a	snp
is	mentioned by
dbSNP	rs733618
dbSNP (classic)	rs733618
ClinGen	rs733618
ebi	rs733618
HLI	rs733618
Exac	rs733618
Gnomad	rs733618
Varsome	rs733618
LitVar	rs733618
Map	rs733618
PheGenI	rs733618
Biobank	rs733618
1000 genomes	rs733618
hgdp	rs733618
ensembl	rs733618
geneview	rs733618
scholar	rs733618
google	rs733618
pharmgkb	rs733618
gwascentral	rs733618
openSNP	rs733618
23andMe	rs733618
SNPshot	rs733618
SNPdbe	rs733618
MSV3d	rs733618
GWAS Ctlg	rs733618

GMAF

0.1708

Max Magnitude

1.8

?

(A;A) (A;G) (G;G)

28

rs733618, also known as T/C-1772, is a SNP in the upstream activator sequence of the cytotoxic T lymphocyte associated antigen-4 CTLA4 gene. This gene encodes the CD152 antigen.

A study of 165 Swedish myasthenia gravis patients concluded that the rs733618(A;G) heterozygotes had an odds ratio of 1.87 (CI: 1.01-3.49, p=0.049) for the disease compared to healthy individuals, yet neither allele on its own showed increased risk.[PMID 18088253]

[PMID 18059468] rs231775 (CTLA4_+49_G/A P=0.0219) and rs733618 (CTLA4_-1722_T/C P=0.0096) susceptibility to Graves' disease

[PMID 21513760] Association of CTLA4 gene polymorphisms with lymphatic filariasis in an East Malaysian population

[PMID 15452244 ] Cytotoxic T-lymphocyte antigen 4 gene and recovery from hepatitis B virus infection.

[PMID 18528295 ] Influence of cytotoxic T lymphocyte-associated antigen 4 (CTLA4) common polymorphisms on outcome in treatment of melanoma patients with CTLA-4 blockade.

[PMID 19264973 ] Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.

[PMID 19300490 ] An African ancestry-specific allele of CTLA4 confers protection against rheumatoid arthritis in African Americans.

[PMID 19500380 ] LD2SNPing: linkage disequilibrium plotter and RFLP enzyme mining for tag SNPs.

[PMID 19609446 ] CTLA4 autoimmunity-associated genotype contributes to severe pulmonary tuberculosis in an African population.

[PMID 19622768 ] CTLA4 variants, UV-induced tolerance, and risk of non-melanoma skin cancer.

[PMID 19956097 ] Remapping the type I diabetes association of the CTLA4 locus.

[PMID 19956101 ] Overview of the Rapid Response data.

[PMID 20018068 ] A comparison of case-only designs for detecting gene x gene interaction in rheumatoid arthritis using genome-wide case-control data in Genetic Analysis Workshop 16.

[PMID 20557968] Association analysis of cytotoxic T-lymphocyte antigen 4 gene polymorphisms with primary biliary cirrhosis in Japanese patients.

[PMID 22288822 ] A pilot study on cytotoxic T lymphocyte-4 gene polymorphisms in urinary schistosomiasis.

[PMID 22418270] Polymorphisms in cytotoxic T lymphocyte associated antigen-4 influence the rate of acute rejection after renal transplantation in 167 Chinese recipients.

[PMID 24015180 ] CTLA4 Gene Polymorphisms Influence the Incidence of Infection after Renal Transplantation in Chinese Recipients

[PMID 23628397] Lack of association between CTLA-4 and PDCD1 polymorphisms and acute rejection in German liver transplant recipients

[PMID 23261408] -1722T/C polymorphism (rs733618) of CTLA-4 significantly associated with systemic lupus erythematosus (SLE): a comprehensive meta-analysis.

[PMID 23663310 ] Investigating highly replicated asthma genes as candidate genes for allergic rhinitis.

[PMID 25900029] SNP-SNP interactions of immunity related genes involved into CD28/B7 pathway with susceptibility to invasive ductal carcinoma of the breast

[PMID 29264740] CTLA-4 polymorphisms are associated with treatment outcomes of patients with multiple myeloma receiving bortezomib-based regimens.

[PMID 29794444] Association of Five Snps in Cytotoxic T-Lymphocyte Antigen 4 and Cancer Susceptibility: Evidence from 67 Studies.