rs922483

This variant is located in the BLK gene.

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GWAS Catalog Trait Associations (1)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

serum albumin amount

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele T

OR 0.01

p 2.0e-11

N 928,679

Large GWAS

multi-ancestry

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Maturity-onset diabetes of the young type 11; not provided

View on ClinVar →

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Research that mentions this SNP (2)

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Identification of a Systemic Lupus Erythematosus Risk Locus Spanning ATG16L2, FCHSD2, and P2RY2 in Koreans

AssociationN=5,422Christopher J. Lessard et al.(2016)· Arthritis & Rheumatology

Genome-wide association study in 1,174 Korean SLE cases and 4,248 controls identified 12 genome-wide significant loci, including a novel locus spanning ATG16L2, FCHSD2, and P2RY2 peaking at rs11235667 (P=1.0×10⁻⁸, OR=0.59). The study replicated 10 previously established SLE risk loci (STAT4, TNFSF4, TNFAIP3, IKZF1, HIP1, IRF5, BLK, WDFY4, ETS1, IRAK1-MECP2) and identified novel independent effects in TNFAIP3 and TNFSF4. HLA-DRB1*1501 and HLA-DQB1*0602 were the strongest HLA associations (P=5.55×10⁻¹⁶, OR=1.85 and OR=1.90 respectively).

Traits studied:Systemic lupus erythematosus (SLE)

PubMed DOI Metascience Observatory

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Genome‐Wide Association Study of Dermatomyositis Reveals Genetic Overlap With Other Autoimmune Disorders

AssociationN=5,902Frederick W. Miller et al.(2013)· Arthritis & Rheumatism

This genome-wide association study (GWAS) of 1,178 dermatomyositis cases and 4,724 controls identified strong associations in the MHC region (P < 5×10⁻⁸ at 80 SNPs) and three novel non-MHC autoimmune-associated variants: PLCL1 (rs6738825, FDR=0.00089), BLK (rs2736340, FDR=0.00031), and CCL21 (rs951005, FDR=0.0076). The findings demonstrate genetic overlap between dermatomyositis and other autoimmune diseases.

Traits studied:Autoimmune disease overlapDermatomyositis (adult and juvenile)

PubMed DOI Metascience Observatory

About BLK

This gene encodes a nonreceptor tyrosine-kinase of the src family of proto-oncogenes that are typically involved in cell proliferation and differentiation. The protein has a role in B-cell receptor signaling and B-cell development. The protein also stimulates insulin synthesis and secretion in response to glucose and enhances the expression of several pancreatic beta-cell transcription factors. [provided by RefSeq, Aug 2010]