Rs13277113

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Orientationplus
is asnp
is mentioned by
dbSNPrs13277113
PheGenIrs13277113
nextbiors13277113
hapmaprs13277113
1000 genomesrs13277113
hgdprs13277113
ensemblrs13277113
gopubmedrs13277113
geneviewrs13277113
scholarrs13277113
googlers13277113
pharmgkbrs13277113
gwascentralrs13277113
openSNPrs13277113
23andMers13277113
23andMe allrs13277113
SNP Nexus

SNPshotrs13277113
SNPdbers13277113
MSV3drs13277113
Chromosome8
Orientationplus
GMAF0.377
Position11491677
ReferenceGRCh38 38.1/141
Max Magnitude
Make rs13277113(A;A)
Make rs13277113(A;G)
Make rs13277113(G;G)
? (A;A) (A;G) (G;G) 28

Associated with systemic lupus erythematosus (SLE) [PMID 18204098]

GWAS
SNP rs13277113
PubMedID [PMID 18204098]
Condition Systemic lupus erythematosus
Gene C8orf13, BLK
Risk Allele A
pValue 1.00E-010
OR 1.39
95% CI 1.28-1.51


OMIM612254
DescSYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12
Variant
Relatedalso
OMIM191305
DescTYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK
Variant
Relatedalso
OMIM610085
DescFAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A
Variant
Relatedalso

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

[PMID 19740902] Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population

[PMID 19796918OA-icon.png] Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations



[PMID 20131239] Association of FAM167A (C8orf13) - BLK region with systemic sclerosis


[PMID 20156505] Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis


[PMID 20842512] The association between single-nucleotide polymorphisms of NCF2 and systemic lupus erythematosus in Chinese mainland population


[PMID 22313735] Identify the association between polymorphisms of BLK and systemic lupus erythematosus through unlabelled probe-based high-resolution melting analysis


[PMID 19180478] Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population.


[PMID 19225526] Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese.


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


[PMID 20018015OA-icon.png] Elastic-net regularization approaches for genome-wide association studies 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 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


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


[PMID 21480188] C8orf13-BLK is a genetic risk locus for systemic sclerosis and has additive effects with BANK1: results from a large french cohort and meta-analysis.


[PMID 21765104OA-icon.png] Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.


GET Evidence
rs13277113
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.3125
summary



GWAS snp
PMID [PMID 23053960]
Trait Systemic lupus erythematosus
Title Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.
Risk Allele A
P-val 2E-10
Odds Ratio 1.39 [1.256-1.540]


[PMID 23646104OA-icon.png] Epistatic Interaction between BANK1 and BLK in Rheumatoid Arthritis: Results from a Large Trans-Ethnic Meta-Analysis


[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.