rs7692387
This is a intron variant variant in the GUCY1A1 gene.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
coronary artery disease
van der Harst P et al. “Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.” Circulation Research 122(3):433-443 (2018)
Allele A
OR 0.06
p 3.0e-23
N 547,261
Large GWAS
appendicular lean mass
Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele A
OR 0.02
p 4.0e-12
N 450,243
Major Consortium StudyLarge GWAS
European
diastolic blood pressure
Surendran P et al. “Trans-ancestry meta-analyses identify rare and common variants associated with blood pressure and hypertension.” Nature Genetics 48(10):1151-1161 (2016)
Allele A
OR —
β 0.023
p 2.0e-8
N 192,763
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★☆☆☆
1 submitter1 publicationAbout GUCY1A1
Soluble guanylate cyclases are heterodimeric proteins that catalyze the conversion of GTP to 3',5'-cyclic GMP and pyrophosphate. The protein encoded by this gene is an alpha subunit of this complex and it interacts with a beta subunit to form the guanylate cyclase enzyme, which is activated by nitric oxide. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Jan 2012]
View all GUCY1A1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…