rs9542236
This is a intron variant variant in the B3GLCT 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.
age-related macular degeneration
Fritsche LG et al. “Seven new loci associated with age-related macular degeneration.” Nature Genetics 45(4):433-9, 439e1-2 (2013)
Allele C
OR 1.10
p 2.0e-8
N 59,494
Large GWAS
multi-ancestry
▶ClinVar annotation
not_provided
1 submitterAbout B3GLCT
The protein encoded by this gene is a beta-1,3-glucosyltransferase that transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several proteins. The encoded protein is a type II membrane protein. Defects in this gene are a cause of Peters-plus syndrome (PPS).[provided by RefSeq, Mar 2009]
View all B3GLCT variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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