rs28678897

This is a regulatory region variant variant in the RAB11FIP3 gene.

GWAS Catalog Trait Associations (3)

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

platelet count

Allele A
OR
p 7.0e-43
N 721,201
Large GWAS
multi-ancestry
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 A
OR 0.05
p 3.0e-23
N 407,168
Major Consortium StudyLarge GWAS
European

platelet component distribution width

Allele A
OR 0.04
p 6.0e-33
N 394,642
Large GWAS
European

platelet volume

Allele G
OR
p 3.0e-15
N 484,042
Large GWAS
multi-ancestry
Vuckovic D et al. The Polygenic and Monogenic Basis of Blood Traits and Diseases. Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.03
p 2.0e-9
N 408,112
Large GWAS
European

About RAB11FIP3

Proteins of the large Rab GTPase family (see RAB1A; MIM 179508) have regulatory roles in the formation, targeting, and fusion of intracellular transport vesicles. RAB11FIP3 is one of many proteins that interact with and regulate Rab GTPases (Hales et al., 2001 [PubMed 11495908]).[supplied by OMIM, Mar 2008]

View all RAB11FIP3 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…