Rs13277113

Orientation

plus

is a	snp
is	mentioned by
dbSNP	rs13277113
PheGenI	rs13277113
nextbio	rs13277113
hapmap	rs13277113
1000 genomes	rs13277113
hgdp	rs13277113
ensembl	rs13277113
gopubmed	rs13277113
geneview	rs13277113
scholar	rs13277113
google	rs13277113
pharmgkb	rs13277113
gwascentral	rs13277113
openSNP	rs13277113
23andMe	rs13277113
23andMe all	rs13277113
SNP Nexus
SNPshot	rs13277113
SNPdbe	rs13277113
MSV3d	rs13277113

Chromosome

8

Orientation

plus

GMAF

0.3773

Position

11349186

Reference

GRCh37 37.1/131

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

OMIM	612254
Desc	SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12
Variant
Related	also

OMIM	191305
Desc	TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK
Variant
Related	also

OMIM	610085
Desc	FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A
Variant
Related	also

[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 19796918] 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 19442287] Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.

[PMID 20018015] Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.

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

[PMID 20369022] 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 21765104] 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 23646104] Epistatic Interaction between BANK1 and BLK in Rheumatoid Arthritis: Results from a Large Trans-Ethnic Meta-Analysis