rs403694

This variant is located in the ADARB1 gene.

GWAS Catalog Trait Associations (3)

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

body height

Allele C
OR 0.01
p 1.0e-18
N 453,169
Large GWAS
European

body mass index

Harris BHL et al. New role of fat-free mass in cancer risk linked with genetic predisposition. Scientific Reports 14(1):7270 (2024)
Allele T
OR 0.02
p 7.0e-14
N 342,566
Large GWAS
European

cigarettes per day measurement

Koskeridis F et al. Pleiotropic genetic architecture and novel loci for C-reactive protein levels. Nature Communications 13(1):6939 (2022)
Allele T
OR 0.01
p 2.0e-9
N 337,334
Large GWAS
European
Allele T
OR 0.01
p 3.0e-8
N 403,928
Large GWAS
European

About ADARB1

This gene encodes the enzyme responsible for pre-mRNA editing of the glutamate receptor subunit B by site-specific deamination of adenosines. Studies in rat found that this enzyme acted on its own pre-mRNA molecules to convert an AA dinucleotide to an AI dinucleotide which resulted in a new splice site. Alternative splicing of this gene results in several transcript variants, some of which have been characterized by the presence or absence of an ALU cassette insert and a short or long C-terminal region. [provided by RefSeq, Jul 2008]

View all ADARB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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