rs1051412

This variant is located in the JAG1 gene.

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GWAS Catalog Trait Associations (2)

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

sclerostin measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.03

p 6.0e-12

N 47,745

Large GWAS

European

systolic blood pressure

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)

Allele C

OR 0.32

p 2.0e-9

N 275,793

Major Consortium StudyLarge GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters1 publication

Isolated Nonsyndromic Congenital Heart Disease; not provided

View on ClinVar →

About JAG1

The jagged 1 protein encoded by JAG1 is the human homolog of the Drosophilia jagged protein. Human jagged 1 is the ligand for the receptor notch 1, the latter is involved in signaling processes. Mutations that alter the jagged 1 protein cause Alagille syndrome. Jagged 1 signalling through notch 1 has also been shown to play a role in hematopoiesis. [provided by RefSeq, Nov 2019]