rs2287921

This is a regulatory region variant variant in the RASIP1 gene.

▶

GWAS Catalog Trait Associations (7)

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

milk amount

Ambalavanan A et al. “Human milk oligosaccharides are associated with maternal genetics and respiratory health of human milk-fed children.” Nature Communications 15(1):7735 (2024)
Allele T
OR 19.96
p 1.0e-88
N 980
Small GWAS
multi-ancestry

low density lipoprotein cholesterol measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)
Allele T
OR 0.02
p 1.0e-44
N 361,194
Large GWAS
European

urinary metabolite measurement

Rueedi R et al. “Genome-wide association study of metabolic traits reveals novel gene-metabolite-disease links.” Plos Genetics 10(2):e1004132 (2014)
Allele C
OR 0.48
p 3.0e-36
N 835
Small GWAS
multi-ancestry

eye measurement

Ikram MK et al. “Four novel Loci (19q13, 6q24, 12q24, and 5q14) influence the microcirculation in vivo.” Plos Genetics 6(10):e1001184 (2010)
Allele T
OR 2.10
p 2.0e-25
N 15,358
Large GWAS
European

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)
Allele C
OR 0.04
p 1.0e-8
N 99,432
Large GWAS
African American or Afro-Caribbean, African unspecified
▶

Research that mentions this SNP (1)

▶
Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B
AssociationN=6,033Jiang DK et al.(2015)· Hepatology

A genome-wide association study of 83 plasma proteins relevant to cardiovascular disease in 3,394 European subjects identified 79 genome-wide significant loci (p<5e-8), with 55 replicating in independent cohorts (n=2,639). Using eQTL analysis and network methods, the authors proposed plausible causal mechanisms for 25 trans-acting loci including post-translational regulation of KITLG by MMP9 and several receptor-ligand pairs. Multiple loci showed evidence of causal association with coronary artery disease risk.

Traits studied:AtherosclerosisCoronary artery diseasePlaque rupturePlasma protein levels (83 cardiovascular disease-related proteins)Thrombosis
PubMedDOIMetascience Observatory

About RASIP1

Enables GTPase binding activity and protein homodimerization activity. Involved in several processes, including negative regulation of Rho protein signal transduction; negative regulation of metabolic process; and positive regulation of integrin activation. Located in cell-cell junction. Part of protein-containing complex. [provided by Alliance of Genome Resources, Jul 2025]

View all RASIP1 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…