| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1.2 | slightly higher risk for lupus |
| (T;T) | 1.4 | slightly higher risk for lupus |
| Reference | GRCh38 38.1/141 |
| Chromosome | 4 |
| Position | 101829919 |
| Gene | BANK1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs10516487 |
| dbSNP (classic) | rs10516487 |
| ClinGen | rs10516487 |
| ebi | rs10516487 |
| HLI | rs10516487 |
| Exac | rs10516487 |
| Gnomad | rs10516487 |
| Varsome | rs10516487 |
| LitVar | rs10516487 |
| Map | rs10516487 |
| PheGenI | rs10516487 |
| Biobank | rs10516487 |
| 1000 genomes | rs10516487 |
| hgdp | rs10516487 |
| ensembl | rs10516487 |
| geneview | rs10516487 |
| scholar | rs10516487 |
| rs10516487 | |
| pharmgkb | rs10516487 |
| gwascentral | rs10516487 |
| openSNP | rs10516487 |
| 23andMe | rs10516487 |
| SNPshot | rs10516487 |
| SNPdbe | rs10516487 |
| MSV3d | rs10516487 |
| GWAS Ctlg | rs10516487 |
| GMAF | 0.2245 |
| Max Magnitude | 1.4 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
rs17266594 rs10516487 rs3733197 gene associated with systemic lupus erythematosus.[PMID 18204447]
The association between rs10516487 and lupus was replicated in a study of 1892 European-derived SLE patients and 2652 European-derived controls; the odds ratio observed was 1.22 (CI: 1.11-1.34, corrected p-value=2.59 x 10e-5).[PMID 19339986
]
| GWAS | |
|---|---|
| SNP | rs10516487 |
| PubMedID | [PMID 18204447] |
| Condition | Systemic lupus erythematosus |
| Gene | BANK1 |
| Risk Allele | G |
| pValue | 4.00E-010 |
| OR | 1.38 |
| 95% CI | 1.25-1.53 |
[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome
[PMID 19815934] BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
[PMID 19877059] BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4
[PMID 21208380] The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis
[PMID 21900951] The dual effect of the lupus-associated polymorphism rs10516487 on BANK1 gene expression and protein localization
[PMID 21989138] Association analysis of BANK1 gene with psoriasis in Southern Han Chinese
| ClinVar | |
|---|---|
| Risk | rs10516487(A;A) Rs10516487(T;T) |
| Alt | rs10516487(A;A) Rs10516487(T;T) |
| Reference | Rs10516487(C;C) |
| Significance | Pathogenic |
| Disease | Systemic lupus erythmatosus |
| Variation | info |
| Gene | BANK1 |
| CLNDBN | Systemic lupus erythmatosus, association with |
| Reversed | 1 |
| HGVS | NC_000004.11:g.102751076G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001331.6, |
[PMID 19180476] Study of functional variants of the BANK1 gene in rheumatoid arthritis.
[PMID 19357697] Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese.
[PMID 19838195] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.
[PMID 19849816] Genetics of rheumatic disease.
[PMID 19923204] Genetic background of systemic sclerosis: autoimmune genes take centre stage.
[PMID 20169177] Genome-wide association study in Asian populations identifies variants in ETS1 and WDFY4 associated with systemic lupus erythematosus.
[PMID 20472928] Role of BANK1 gene polymorphisms in biopsy-proven giant cell arteritis.
[PMID 21078628] Identification of BANK1 polymorphisms by unlabelled probe high resolution melting: association with systemic lupus erythematosus susceptibility and autoantibody production in Han Chinese.
[PMID 21379322] Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.
[PMID 21408207] Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.
[PMID 23646104] Epistatic Interaction between BANK1 and BLK in Rheumatoid Arthritis: Results from a Large Trans-Ethnic Meta-Analysis
[PMID 23406209] Association of ZAP70 and PTPN6, but Not BANK1 or CLEC2D, with inflammatory bowel disease in the Tunisian population.
[PMID 26420661] Gene-gene interaction of ATG5, ATG7, BLK and BANK1 in systemic lupus erythematosus
[PMID 30145638] Association between the BANK1 rs3733197 polymorphism and polymyositis/dermatomyositis in a Chinese Han population.
[PMID 31149782] Polymorphisms in MAPK9 (rs4147385) and CSF1R (rs17725712) are associated with the development of inhibitors in patients with haemophilia A in North China.
[PMID 32153635] Association of BLK and BANK1 Polymorphisms and Interactions With Rheumatoid Arthritis in a Latin-American Population.
