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rs2248932

From SNPedia

Orientationminus
Stabilizedminus
Make rs2248932(C;C)
Make rs2248932(C;T)
Make rs2248932(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position11534141
GeneBLK
is asnp
is mentioned by
dbSNPrs2248932
dbSNP (classic)rs2248932
ClinGenrs2248932
ebirs2248932
HLIrs2248932
Exacrs2248932
Gnomadrs2248932
Varsomers2248932
LitVarrs2248932
Maprs2248932
PheGenIrs2248932
Biobankrs2248932
1000 genomesrs2248932
hgdprs2248932
ensemblrs2248932
geneviewrs2248932
scholarrs2248932
googlers2248932
pharmgkbrs2248932
gwascentralrs2248932
openSNPrs2248932
23andMers2248932
SNPshotrs2248932
SNPdbers2248932
MSV3drs2248932
GWAS Ctlgrs2248932
GMAF0.4954
Max Magnitude0
? (C;C) (C;T) (T;T) 28


[PMID 20130895] The association of the BLK gene with SLE (lupus) was replicated in Chinese Han


[PMID 22740142] Influence of BLK polymorphisms on the risk of rheumatoid arthritis


[PMID 20018022OA-icon.png] Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.


[PMID 21152986] Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis.


[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.


[PMID 22696686OA-icon.png] Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.