rs10949483
This is a variant in the NHLRC1 gene that changes a proline to an leucine.
▶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.
aging
McCartney DL et al. “Genome-wide association studies identify 137 genetic loci for DNA methylation biomarkers of aging.” Genome Biology 22(1):194 (2021)
Allele A
OR 0.37
p 5.0e-32
N 34,461
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
12 submitters5 publicationsInborn genetic diseases; Lafora disease; not specified
View on ClinVar →About NHLRC1
The protein encoded by this gene is a single subunit E3 ubiquitin ligase. Laforin is polyubiquitinated by the encoded protein. Defects in this intronless gene lead to an accumulation of laforin and onset of Lafora disease, also known as progressive myoclonic epilepsy type 2 (EPM2).[provided by RefSeq, Mar 2010]
View all NHLRC1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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