From SNPedia
rs17266594 rs10516487 rs3733197 gene associated with systemic
lupus erythematosus.[
PMID 18204447]
The association between rs17266594 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: 1.12-1.34, corrected p-value=1.97 x 10e-5).[PMID 19339986]
| ? | (C;C) (C;T) (T;T) |
|---|
 |
[PMID 19357697] Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese.
Related to B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1
according to
omim 610292. See
also
[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors
[PMID 19815934] BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
| PharmGKB | PA161925606 |
| Name | |
| Annotation | This variant is in strong linkage disequilibrium with rs10516487, associated with systemic lupus erythematosus. The study showed that the BANK1 gene can be expressed in two isoforms, one full-length and the other alternatively spliced and lacking exon 2. The transcripts were differentially expressed depending on this SNP. |
| Gene | BANK1 |
| Featue | |
| Evidence | PubMed ID:18204447 |
| Drugs | |
| Diseases | Lupus Erythematosus, Systemic |
| Curation Level | Curated |
