rs3762515

This variant is located in the EFEMP1 gene.

▶

GWAS Catalog Trait Associations (3)

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

hypertension, white matter hyperintensity measurement

Sargurupremraj M et al. “Cerebral small vessel disease genomics and its implications across the lifespan.” Nature Communications 11(1):6285 (2020)
Allele T
OR —
p 1.0e-18
N 48,524
Large GWAS
multi-ancestry

Inguinal hernia

Wei J et al. “Identification of fifty-seven novel loci for abdominal wall hernia development and their biological and clinical implications: results from the UK Biobank.” Hernia : the Journal of Hernias and Abdominal Wall Surgery 26(1):335-348 (2022)
Allele T
OR 1.15
p 8.0e-14
N 275,546
Major Consortium StudyLarge GWAS
European

hippocampal volume

Liu N et al. “Cross-ancestry genome-wide association meta-analyses of hippocampal and subfield volumes.” Nature Genetics 55(7):1126-1137 (2023)
Allele T
OR 0.08
p 2.0e-9
N 38,977
Large GWAS
European, East Asian
▶

ClinVar annotation

Benign★★★☆
2 submitters1 publication

Doyne honeycomb retinal dystrophy; not provided

View on ClinVar →

About EFEMP1

This gene encodes a member of the fibulin family of extracellular matrix glycoproteins. Like all members of this family, the encoded protein contains tandemly repeated epidermal growth factor-like repeats followed by a C-terminus fibulin-type domain. This gene is upregulated in malignant gliomas and may play a role in the aggressive nature of these tumors. Mutations in this gene are associated with Doyne honeycomb retinal dystrophy. Alternatively spliced transcript variants that encode the same protein have been described.[provided by RefSeq, Nov 2009]

View all EFEMP1 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…