rs11591
This variant is located in the DDRGK1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
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 0.02
p 5.0e-10
N 355,891
Major Consortium StudyLarge GWAS
multi-ancestry
serum gamma-glutamyl transferase 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-9
N 355,690
Major Consortium StudyLarge GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
2 submitters2 publicationsAbout DDRGK1
The protein encoded by this gene interacts with components of the ubiquitin fold modifier 1 conjugation pathway and helps prevent apoptosis in ER-stressed secretory tissues. In addition, the encoded protein regulates nuclear factor-κB activity. [provided by RefSeq, Dec 2015]
View all DDRGK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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