rs1127311

This variant is located in the ADAR gene.

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GWAS Catalog Trait Associations (2)

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

cholesteryl esters to total lipids in small VLDL percentage

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele A

OR 0.01

p 7.0e-11

N 450,015

Large GWAS

multi-ancestry

triglyceride measurement, C-reactive protein measurement

Ligthart S et al. “Bivariate genome-wide association study identifies novel pleiotropic loci for lipids and inflammation.” Bmc Genomics 17:443 (2016)

Allele A

OR —

p 6.0e-9

N 161,598

Large GWAS

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ClinVar annotation

Benign★★★☆

2 submitters1 publication

Symmetrical dyschromatosis of extremities; not provided

View on ClinVar →

About ADAR

This gene encodes the enzyme responsible for RNA editing by site-specific deamination of adenosines. This enzyme destabilizes double-stranded RNA through conversion of adenosine to inosine. Mutations in this gene have been associated with dyschromatosis symmetrica hereditaria. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2010]