From SNPedia
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]
| ? | (C;C) (C;T) (T;T) |
|---|
 |
Related to B-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1
according to
omim 610292. See
also
[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
| PharmGKB | PA161925607 |
| Name | BANK1: R61H |
| Annotation | In a genome-wide scan an association between systemic lupus erythematosus and this nonsynonymous SNP in the BANK1 gene was identified. |
| Gene | BANK1 |
| Featue | |
| Evidence | PubMed ID:18204447 |
| Drugs | |
| Diseases | Lupus Erythematosus, Systemic |
| Curation Level | Curated |
[PMID 19877059] BANK1 is a genetic risk factor for diffuse cutaneous systemic sclerosis and has additive effects with IRF5 and STAT4
