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rs10516487

From SNPedia
(Redirected from Rs105167487)

Orientationminus
Stabilizedminus
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
ReferenceGRCh38 38.1/141
Chromosome4
Position101829919
GeneBANK1
is asnp
is mentioned by
dbSNPrs10516487
ebirs10516487
HLIrs10516487
Exacrs10516487
Varsomers10516487
Maprs10516487
PheGenIrs10516487
hapmaprs10516487
1000 genomesrs10516487
hgdprs10516487
ensemblrs10516487
gopubmedrs10516487
geneviewrs10516487
scholarrs10516487
googlers10516487
pharmgkbrs10516487
gwascentralrs10516487
openSNPrs10516487
23andMers10516487
23andMe allrs10516487
SNP Nexus

SNPshotrs10516487
SNPdbers10516487
MSV3drs10516487
GWAS Ctlgrs10516487
GMAF0.2245
Max Magnitude1.4
? (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 19339986OA-icon.png]

Neighborrs17266594
Distance154
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


OMIM610292
DescB-CELL SCAFFOLD PROTEIN WITH ANKYRIN REPEATS 1; BANK1
Variant
Relatedalso

[PMID 19644876] Association of STAT4 and BLK, but not BANK1 or IRF5, with primary antiphospholipid syndrome

[PMID 19815934OA-icon.png] 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

OMIM610292
Desc
Variant0001
Relatedalso
[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


ClinVar
Risk rs10516487(T;T)
Alt 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
CLNACC RCV000001331.5,



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


[PMID 19357697OA-icon.png] Association of BANK1 and TNFSF4 with systemic lupus erythematosus in Hong Kong Chinese.


[PMID 19838195OA-icon.png] A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus.


[PMID 19849816OA-icon.png] Genetics of rheumatic disease.


[PMID 19923204] Genetic background of systemic sclerosis: autoimmune genes take centre stage.


[PMID 20169177OA-icon.png] 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 21379322OA-icon.png] Risk alleles for systemic lupus erythematosus in a large case-control collection and associations with clinical subphenotypes.


[PMID 21408207OA-icon.png] Differential genetic associations for systemic lupus erythematosus based on anti-dsDNA autoantibody production.


GET Evidence
BANK1-R61H
aa_change Arg61His
aa_change_short R61H
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.283417
summary



[PMID 23646104OA-icon.png] 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