rs62282867
This variant is located in the IMPG2 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.
photoreceptor cell layer thickness measurement
Currant H et al. “Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.” Plos Genetics 19(2):e1010587 (2023)
Allele A
OR 0.34
p 5.0e-19
N 31,135
Large GWAS
European
About IMPG2
The protein encoded by this gene binds chondroitin sulfate and hyaluronan and is a proteoglycan. The encoded protein plays a role in the organization of the interphotoreceptor matrix and may promote the growth and maintenance of the light-sensitive photoreceptor outer segment. Defects in this gene are a cause of retinitis pigmentosa type 56 and maculopathy, IMPG2-related.[provided by RefSeq, Mar 2011]
View all IMPG2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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