rs72689147
This is a intron variant variant in the GUCY1A1 gene.
▶GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (6)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
coronary atherosclerosis
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.05
p 4.0e-16
N 424,341
Major Consortium StudyLarge GWAS
European
myocardial infarction
Hartiala JA et al. “Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.” European Heart Journal 42(9):919-933 (2021)
Allele G
OR 1.07
p 7.0e-13
N 639,221
Large GWAS
multi-ancestry
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele G
OR 1.08
p 2.0e-8
N 166,459
Meta-analysisLarge GWAS
multi-ancestry
hypertension, Antihypertensive use measurement
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.05
p 5.0e-12
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry
angina pectoris
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.07
p 7.0e-12
N 630,096
Large GWAS
multi-ancestry
Calcium channel blocker use measurement
Wu Y et al. “Genome-wide association study of medication-use and associated disease in the UK Biobank.” Nature Communications 10(1):1891 (2019)
Allele T
OR 0.07
p 2.0e-10
N 204,378
Major Consortium StudyLarge GWAS
European
Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.04
p 1.0e-9
N 383,104
Large GWAS
multi-ancestry
coronary artery disease
Koskeridis F et al. “Multi-trait association analysis reveals shared genetic loci between Alzheimer's disease and cardiovascular traits.” Nature Communications 15(1):9827 (2024)
Allele T
OR 0.02
p 6.0e-10
N 640,258
Large GWAS
European, East Asian
Nikpay M et al. “A comprehensive 1,000 Genomes-based genome-wide association meta-analysis of coronary artery disease.” Nature Genetics 47(10):1121-1130 (2015)
Allele T
OR 1.07
p 6.0e-9
N 187,599
Meta-analysisLarge GWAS
multi-ancestry
About 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.
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