rs12029454

This is a intron variant variant in the NOS1AP gene.

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GWAS Catalog Trait Associations (2)

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

QT interval

Newton-Cheh C et al. “Common variants at ten loci influence QT interval duration in the QTGEN Study.” Nature Genetics 41(4):399-406 (2009)

Allele A

OR 2.98

p 3.0e-45

N 13,685

Large GWAS

European

body composition measurement

Wu Z et al. “Genetic architecture of bone marrow fat fraction implies its involvement in osteoporosis risk.” Nature Communications 16(1):7490 (2025)

Allele A

OR 0.06

p 5.0e-10

N 39,144

Large GWAS

European

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Research that mentions this SNP (1)

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Association of genetic variants of NOS1AP with type 2 diabetes in a Chinese population

AssociationN=6,771Hu C. et al.(2010)· Diabetologia

This case-control study of 6,771 Chinese participants investigated the association between NOS1AP genetic variants and type 2 diabetes. In a two-stage analysis, SNP rs12742393 showed the strongest association with type 2 diabetes in stage 1 (OR 1.24, 95% CI 1.11–1.38, p=0.0002), though it did not reach significance in stage 2. Meta-analysis combining both stages (6,469 participants) confirmed a significant association (OR 1.17, 95% CI 1.07–1.26, p=0.0005), but the authors conclude NOS1AP likely plays only a minor role in type 2 diabetes susceptibility.

Traits studied:Type 2 diabetes

PubMed DOI Metascience Observatory

About NOS1AP

This gene encodes a cytosolic protein that binds to the signaling molecule, neuronal nitric oxide synthase (nNOS). This protein has a C-terminal PDZ-binding domain that mediates interactions with nNOS and an N-terminal phosphotyrosine binding (PTB) domain that binds to the small monomeric G protein, Dexras1. Studies of the related mouse and rat proteins have shown that this protein functions as an adapter protein linking nNOS to specific targets, such as Dexras1 and the synapsins. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2009]