rs13277113
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 |
| Make rs13277113(A;G) |
| Make rs13277113(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 11491677 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs13277113 |
| dbSNP (classic) | rs13277113 |
| ClinGen | rs13277113 |
| ebi | rs13277113 |
| HLI | rs13277113 |
| Exac | rs13277113 |
| Gnomad | rs13277113 |
| Varsome | rs13277113 |
| LitVar | rs13277113 |
| Map | rs13277113 |
| PheGenI | rs13277113 |
| Biobank | rs13277113 |
| 1000 genomes | rs13277113 |
| hgdp | rs13277113 |
| ensembl | rs13277113 |
| geneview | rs13277113 |
| scholar | rs13277113 |
| rs13277113 | |
| pharmgkb | rs13277113 |
| gwascentral | rs13277113 |
| openSNP | rs13277113 |
| 23andMe | rs13277113 |
| SNPshot | rs13277113 |
| SNPdbe | rs13277113 |
| MSV3d | rs13277113 |
| GWAS Ctlg | rs13277113 |
| GMAF | 0.377 |
| Max Magnitude | 2 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
Associated with systemic lupus erythematosus (SLE) [PMID 18204098]
| GWAS | |
|---|---|
| SNP | rs13277113 |
| PubMedID | [PMID 18204098] |
| Condition | Systemic lupus erythematosus |
| Gene | C8orf13, BLK |
| Risk Allele | A |
| pValue | 1.00E-010 |
| OR | 1.39 |
| 95% CI | 1.28-1.51 |
[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors
[PMID 19740902] Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population
[PMID 19796918
] Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations
[PMID 20131239] Association of FAM167A (C8orf13) - BLK region with systemic sclerosis
[PMID 20156505] Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis
[PMID 20842512] The association between single-nucleotide polymorphisms of NCF2 and systemic lupus erythematosus in Chinese mainland population
[PMID 22313735] Identify the association between polymorphisms of BLK and systemic lupus erythematosus through unlabelled probe-based high-resolution melting analysis
[PMID 19180478] Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population.
[PMID 19225526] Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese.
[PMID 19442287] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
[PMID 20018015] Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.
[PMID 20018022] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.
[PMID 20369022] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
[PMID 21152986] Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis.
[PMID 21480188] C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.
[PMID 21765104] Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.
| GWAS snp | |
|---|---|
| PMID | [PMID 23053960] |
| Trait | Systemic lupus erythematosus |
| Title | Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis. |
| Risk Allele | A |
| P-val | 2E-10 |
| Odds Ratio | 1.39 [1.256-1.540] |
[PMID 23646104] Epistatic Interaction between BANK1 and BLK in Rheumatoid Arthritis: Results from a Large Trans-Ethnic Meta-Analysis
[PMID 22696686] Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
[PMID 25862617] Genome-wide search followed by replication reveals genetic interaction of CD80 and ALOX5AP associated with systemic lupus erythematosus in Asian populations
[PMID 27088737] Genetic risk of TNFSF4 and FAM167A-BLK polymorphisms in children with asthma and allergic rhinitis in a Han Chinese population.
[PMID 28713926] Association between TNFSF4 and BLK gene polymorphisms and susceptibility to allergic rhinitis.
[PMID 32153635] Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population.
[PMID 32330537] Associations of IL6 rs1800795, BLK rs13277113, TIMP3 rs9621532, IL1RL1 rs1041973 and IL1RAP rs4624606 single gene polymorphisms with laryngeal squamous cell carcinoma.
