rs1600249
This variant is located in the BLK gene.
▶GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (8)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of serum globulin type protein
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 1.0e-27
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
alkaline phosphatase measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 3.0e-24
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry
aspartate aminotransferase measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 3.0e-18
N 354,541
Major Consortium StudyLarge GWAS
multi-ancestry
blood protein amount
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.03
p 1.0e-17
N 325,292
Major Consortium StudyLarge GWAS
multi-ancestry
glomerular filtration rate
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 1.0e-11
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry
serum creatinine amount
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 1.0e-11
N 355,731
Major Consortium StudyLarge GWAS
multi-ancestry
serum alanine aminotransferase amount
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 4.0e-11
N 355,729
Major Consortium StudyLarge GWAS
multi-ancestry
triglyceride measurement
Sinnott-Armstrong N et al. “Genetics of 35 blood and urine biomarkers in the UK Biobank.” Nature Genetics 53(2):185-194 (2021)
Allele T
OR 0.02
p 6.0e-11
N 355,577
Major Consortium StudyLarge GWAS
multi-ancestry
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]
View all BLK variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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