rs57078845

This is a intron variant variant in the CHD1L gene.

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GWAS Catalog Trait Associations (2)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

chromosome, telomeric region length

Burren OS et al. “Genetic architecture of telomere length in 462,666 UK Biobank whole-genome sequences.” Nature Genetics 56(9):1832-1840 (2024)

Allele G

OR 0.03

p 7.0e-15

N 438,351

Major Consortium StudyLarge GWAS

European

type 2 diabetes mellitus

Elashi AA et al. “Genome-wide association study and trans-ethnic meta-analysis identify novel susceptibility loci for type 2 diabetes mellitus.” Bmc Medical Genomics 17(1):115 (2024)

Allele A

OR 0.04

p 3.0e-8

N 6,710,881

Meta-analysisLarge GWAS

multi-ancestry

About 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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