rs112167630
This variant is located in the MEGF8 gene.
▶GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (1)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
amount of hepatocyte growth factor receptor (human) in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.22
p 5.0e-49
N 47,745
Large GWAS
European
▶ClinVar annotation
Likely Benign★★★☆
3 submitters2 publicationsMEGF8-related Carpenter syndrome; not provided
View on ClinVar →About MEGF8
The protein encoded by this gene is a single-pass type I membrane protein of unknown function that contains several EGF-like domains, Kelch repeats, and PSI domains. Defects in this gene are a cause of Carpenter syndrome 2. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
View all MEGF8 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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