{{Rsnum
|rsid=13277113
|Chromosome=8
|position=11491677
|Orientation=plus
|GMAF=0.377
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 4.4 | 38.1 | 57.5
| HCB | 57.7 | 35.8 | 6.6
| JPT | 46.0 | 44.2 | 9.7
| YRI | 2.0 | 20.4 | 77.6
| ASW | 1.8 | 22.8 | 75.4
| CHB | 57.7 | 35.8 | 6.6
| CHD | 43.1 | 47.7 | 9.2
| GIH | 11.9 | 38.6 | 49.5
| LWK | 0.0 | 24.5 | 75.5
| MEX | 39.7 | 41.4 | 19.0
| MKK | 1.3 | 25.2 | 73.5
| TSI | 6.9 | 27.5 | 65.7
| HapMapRevision=28
}}

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

{{GWAS Summary
|SNP=rs13277113
|PubMedID=18204098
|Condition=Systemic lupus erythematosus
|Gene=C8orf13, BLK
|Risk Allele=A
|pValue=1.00E-010
|OR=1.39
|95CI=1.28-1.51
}}

{{omim
|desc=SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 12; SLEB12
|id=612254
|rsnum=13277113
}}

{{omim
|desc=TYROSINE KINASE, B-LYMPHOCYTE SPECIFIC; BLK
|id=191305
|rsnum=13277113
}}

{{omim
|desc=FAMILY WITH SEQUENCE SIMILARITY 167, MEMBER A; FAM167A
|id=610085
|rsnum=13277113
}}
{{PMID Auto
|PMID=19714582
|Title=Rheumatoid arthritis does not share most of the newly identified systemic lupus erythematosus genetic factors
}}
{{PMID Auto
|PMID=19740902
|Title=Replication of association between FAM167A(C8orf13)-BLK region and rheumatoid arthritis in a Japanese population
}}
{{PMID Auto
|PMID=19796918
|Title=Association of the C8orf13-BLK region with systemic sclerosis in North-American and European populations
|OA=1
}}

{{PharmGKB
|RSID=rs13277113
|Name_s=
|Gene_s=BLK
|Feature=
|Evidence=PubMed ID:18204098; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Association of systemic lupus erythematosus with C8orf13-BLK and ITGAM-ITGAX (Initial Sample Size: 1,311 cases, 3,340 controls; Replication Sample Size: 793 cases, 857 controls; Risk Allele: rs13277113-A).
|Drugs=
|Drug Classes=
|Diseases=Lupus erythematosus; Lupus Erythematosus, Systemic
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356732
}}

{{PMID Auto
|PMID=20131239
|Title=Association of FAM167A (C8orf13) - BLK region with systemic sclerosis
}}

{{PMID Auto
|PMID=20156505
|Title=Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis
}}

{{PMID Auto
|PMID=20842512
|Title=The association between single-nucleotide polymorphisms of NCF2 and systemic lupus erythematosus in Chinese mainland population
}}

{{PMID Auto
|PMID=22313735
|Title=Identify the association between polymorphisms of BLK and systemic lupus erythematosus through unlabelled probe-based high-resolution melting analysis
}}

{{PMID Auto
|PMID=19180478
|Title=Replication of the association between the C8orf13-BLK region and systemic lupus erythematosus in a Japanese population.
}}

{{PMID Auto
|PMID=19225526
|Title=Population differences in SLE susceptibility genes: STAT4 and BLK, but not PXK, are associated with systemic lupus erythematosus in Hong Kong Chinese.
}}

{{PMID Auto
|PMID=19442287
|Title=Replication of recently identified systemic lupus erythematosus genetic associations: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=20018015
|Title=Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.
|OA=1
}}

{{PMID Auto
|PMID=20018022
|Title=Replication of recently identified associated single-nucleotide polymorphisms from six autoimmune diseases in Genetic Analysis Workshop 16 rheumatoid arthritis data.
|OA=1
}}

{{PMID Auto
|PMID=20369022
|Title=Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.
|OA=1
}}

{{PMID Auto
|PMID=21152986
|Title=Association of BLK (rs13277113, rs2248932) polymorphism with systemic lupus erythematosus: a meta-analysis.
}}

{{PMID Auto
|PMID=21480188
|Title=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 Auto
|PMID=21765104
|Title=Evaluation of 19 autoimmune disease-associated loci with rheumatoid arthritis in a Colombian population: evidence for replication and gene-gene interaction.
|OA=1
}}

{{GET Evidence
|impact=pathogenic
|qualified_impact=Insufficiently evaluated pathogenic
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs13277113
|overall_frequency_n=40
|overall_frequency_d=128
|overall_frequency=0.3125
|n_genomes=25
|n_genomes_annotated=0
|n_haplomes=34
|n_articles=0
|n_articles_annotated=0
|in_gwas=Y
|in_pharmgkb=Y
|autoscore=2
|webscore=N
}}

{{PMID Auto GWAS
  |PMID=23053960
  |Trait=Systemic lupus erythematosus
  |Title=Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and rheumatoid arthritis.
  |RiskAllele=A
  |Pval=2E-10
  |OR=1.39
  |ORtxt=[1.256-1.540]
  }}

{{PMID Auto
|PMID=23646104
|Title=Epistatic Interaction between BANK1 and BLK in Rheumatoid Arthritis: Results from a Large Trans-Ethnic Meta-Analysis
|OA=1
}}

{{PMID Auto
|PMID=22696686
|Title=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.
|OA=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}