rs919791

This is a upstream gene variant variant in the RASAL3 gene.

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GWAS Catalog Trait Associations (5)

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

protein measurement

Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele A
OR 0.44
p 1.0e-159
N 10,708
Large GWAS
European

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele A
OR 0.42
p 7.0e-87
N 5,355
Large GWAS
European

carboxypeptidase A2 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.330
p 1.0e-27
N 3,301
Large GWAS
European

bombesin receptor-activated protein C6orf89 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.270
p 6.0e-19
N 3,301
Large GWAS
European

phosphoglycerate kinase 1 measurement

Sun BB et al. “Genomic atlas of the human plasma proteome.” Nature 558(7708):73-79 (2018)
Allele A
OR —
β 0.220
p 2.0e-13
N 3,301
Large GWAS
European

About RASAL3

This gene belongs to the Ras GTPase-activating proteins (RasGAP) family and encodes a protein with pleckstrin homology (PH), C2, and Ras GTPase-activation protein (RasGAP) domains. This protein is localized near or at the plasma membrane when expressed exogenously. Reduced expression of this gene in some cell lines resulted in increased levels of the active form of Ras (Ras-GTP), suggesting that this gene may play a role in negatively regulating the Ras signaling pathway. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jan 2017]

View all RASAL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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