rs3737848
This variant is located in the CHD1L 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.
chromosome, telomeric region length
Liu WS et al. “Whole exome sequencing analyses reveal novel genes in telomere length and their biomedical implications.” Geroscience 46(5):5365-5385 (2024)
Allele C
OR 0.02
p 2.0e-8
N 327,790
Large GWAS
European
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout CHD1L
This gene encodes a DNA helicase protein involved in DNA repair. The protein converts ATP to add poly(ADP-ribose) as it regulates chromatin relaxation following DNA damage. Overexpression of this gene has been linked to several types of cancers. [provided by RefSeq, Feb 2017]
View all CHD1L variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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