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rs17266594

From SNPedia

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ReferenceGRCh38 38.1/141
Chromosome4
Position101829765
GeneBANK1
is asnp
is mentioned by
dbSNPrs17266594
ebirs17266594
HLIrs17266594
Exacrs17266594
Varsomers17266594
Maprs17266594
PheGenIrs17266594
hapmaprs17266594
1000 genomesrs17266594
hgdprs17266594
ensemblrs17266594
gopubmedrs17266594
geneviewrs17266594
scholarrs17266594
googlers17266594
pharmgkbrs17266594
gwascentralrs17266594
openSNPrs17266594
23andMers17266594
23andMe allrs17266594
SNP Nexus

SNPshotrs17266594
SNPdbers17266594
MSV3drs17266594
GWAS Ctlgrs17266594
GMAF0.225
Max Magnitude
? (C;C) (C;T) (T;T) 28
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 19339986OA-icon.png]

Neighborrs10516487
Distance154
[PMID 19357697OA-icon.png] Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese.
OMIM610292
DescB-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1
Variant
Relatedalso

[PMID 19714582] Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors

[PMID 19815934OA-icon.png] BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians



[PMID 21208380] The association between BANK1 and TNFAIP3 gene polymorphisms and systemic lupus erythematosus: a meta-analysis


[PMID 21900951OA-icon.png] 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

[PMID 19180476] Study of functional variants of the BANK1 gene in rheumatoid arthritis.

[PMID 19442287OA-icon.png] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.

[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.


GET Evidence
rs17266594
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.259602
summary



[PMID 23406209] Association of ZAP70 and PTPN6, but Not BANK1 or CLEC2D, with inflammatory bowel disease in the Tunisian population.