rs1802575

This variant is located in the EFEMP1 gene.

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GWAS Catalog Trait Associations (8)

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

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 C

OR 1.17

p 3.0e-24

N 275,546

Major Consortium StudyLarge GWAS

European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele C

OR 0.24

p 6.0e-20

N 1,028,980

Large GWAS

multi-ancestry

diverticular disease

Maguire LH et al. “Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease.” Nature Genetics 50(10):1359-1365 (2018)

Allele C

OR —

β 0.006

p 8.0e-16

N 409,728

Large GWAS

European

pelvic organ prolapse

Matsunami M et al. “Genome-wide association studies for pelvic organ prolapse in the Japanese population.” Communications Biology 7(1):1188 (2024)

Allele C

OR 1.12

p 1.0e-14

N 651,773

Large GWAS

multi-ancestry

digestive system disease, abdominal abscess

Tängdén T et al. “A genome-wide association study in a large community-based cohort identifies multiple loci associated with susceptibility to bacterial and viral infections.” Scientific Reports 12(1):2582 (2022)

Allele C

OR 1.08

p 2.0e-11

N 337,484

Large GWAS

European

susceptibility to childhood ear infection measurement

Tian C et al. “Genome-wide association and HLA region fine-mapping studies identify susceptibility loci for multiple common infections.” Nature Communications 8(1):599 (2017)

Allele G

OR 1.09

p 1.0e-10

N 121,810

Large GWAS

European

diastolic blood pressure

Allele C

OR 0.14

p 5.0e-10

N 1,028,980

Large GWAS

multi-ancestry

BMI-adjusted waist circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)

Allele C

OR 0.02

p 4.0e-8

N 219,872

Major Consortium StudyLarge GWAS

European

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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]

rs1802575

GWAS Catalog Trait Associations (8)

Inguinal hernia

pulse pressure measurement

diverticular disease

pelvic organ prolapse

digestive system disease, abdominal abscess

susceptibility to childhood ear infection measurement

diastolic blood pressure

BMI-adjusted waist circumference

ClinVar annotation

About EFEMP1

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