rs11568821
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 |
| Make rs11568821(A;A) |
| Make rs11568821(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 2 |
| Position | 241851760 |
| Gene | LOC105373977, PDCD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11568821 |
| dbSNP (classic) | rs11568821 |
| ClinGen | rs11568821 |
| ebi | rs11568821 |
| HLI | rs11568821 |
| Exac | rs11568821 |
| Gnomad | rs11568821 |
| Varsome | rs11568821 |
| LitVar | rs11568821 |
| Map | rs11568821 |
| PheGenI | rs11568821 |
| Biobank | rs11568821 |
| 1000 genomes | rs11568821 |
| hgdp | rs11568821 |
| ensembl | rs11568821 |
| geneview | rs11568821 |
| scholar | rs11568821 |
| rs11568821 | |
| pharmgkb | rs11568821 |
| gwascentral | rs11568821 |
| openSNP | rs11568821 |
| 23andMe | rs11568821 |
| SNPshot | rs11568821 |
| SNPdbe | rs11568821 |
| MSV3d | rs11568821 |
| GWAS Ctlg | rs11568821 |
| GMAF | 0.04821 |
| Max Magnitude | 0 |
intronic snp associated with systemic lupus erythematosus and rheumatoid arthritis.
[PMID 19581275] Association between a polymorphism in the human programmed death-1 (PD-1) gene and CMV infection after kidney transplantation
[PMID 15657875
] Polymorphisms in the tyrosine kinase 2 and interferon regulatory factor 5 genes are associated with systemic lupus erythematosus.
[PMID 17535987] Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility.
[PMID 18045485] The candidate genes TAF5L, TCF7, PDCD1, IL6 and ICAM1 cannot be excluded from having effects in type 1 diabetes.
[PMID 18401354] Analysis of the functional relevance of a putative regulatory SNP of PDCD1, PD1.3, associated with systemic lupus erythematosus.
[PMID 18456185] Genetics and genomics of primary biliary cirrhosis.
[PMID 19234630] PDCD1 genes may protect against extraocular manifestations in Chinese Han patients with Vogt-Koyanagi-Harada syndrome.
[PMID 23628397] Lack of association between CTLA-4 and PDCD1 polymorphisms and acute rejection in German liver transplant recipients
[PMID 24804191] A Promoter Region Polymorphism in PDCD-1 Gene Is Associated with Risk of Rheumatoid Arthritis in the Han Chinese Population of Southeastern China
| ClinVar | |
|---|---|
| Risk | rs11568821(A;A) rs11568821(C;C) |
| Alt | rs11568821(A;A) rs11568821(C;C) |
| Reference | Rs11568821(G;G) |
| Significance | Other |
| Disease | Systemic lupus erythematosus Multiple sclerosis modifier of disease progression |
| Variation | info |
| Gene | PDCD1 |
| CLNDBN | Systemic lupus erythematosus, association wit 2 Multiple sclerosis modifier of disease progression |
| Reversed | 1 |
| HGVS | NC_000002.11:g.242793912C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009832.2, RCV000009833.5, |
[PMID 26232179] The associations between PD-1, CTLA-4 gene polymorphisms and susceptibility to ankylosing spondylitis: a meta-analysis and systemic review
[PMID 30019128] PD-1 genotype of the donor is associated with acute graft-versus-host disease after HLA-identical sibling donor stem cell transplantation.
[PMID 33255938] SNP-SNP Interaction in Genes Encoding PD-1/PD-L1 Axis as a Potential Risk Factor for Clear Cell Renal Cell Carcinoma.
