rs12739999
This is a intron variant variant in the ADGRB2 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
leukocyte quantity
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 0.02
p 5.0e-13
N 545,235
Major Consortium StudyLarge GWAS
multi-ancestry
fat pad mass
Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.02
p 7.0e-13
N 337,196
Large GWAS
European
gait quality
Timmins IR et al. “Genome-wide association study of self-reported walking pace suggests beneficial effects of brisk walking on health and survival.” Communications Biology 3(1):634 (2020)
Allele G
OR 0.01
p 3.0e-12
N 450,967
Large GWAS
European
visceral adipose tissue quantity
Karlsson T et al. “Contribution of genetics to visceral adiposity and its relation to cardiovascular and metabolic disease.” Nature Medicine 25(9):1390-1395 (2019)
Allele A
OR 0.02
p 5.0e-11
N 325,153
Large GWAS
European
smoking initiation
Liu M et al. “Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use.” Nature Genetics 51(2):237-244 (2019)
Allele A
OR 0.01
p 6.0e-9
N 931,815
Large GWAS
European
About ADGRB2
This gene encodes a a seven-span transmembrane protein that is thought to be a member of the secretin receptor family. The encoded protein is a brain-specific inhibitor of angiogenesis. The mature peptide may be further cleaved into additional products (PMID:20367554). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jun 2014]
View all ADGRB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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