rs6687605

This is a variant in the LDLRAP1 gene that changes a serine to an proline.

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GWAS Catalog Trait Associations (1)

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

integrin alpha-L measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele C

OR 0.04

p 1.0e-12

N 47,745

Large GWAS

European

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ClinVar annotation

Benign★★★☆

1 submitter2 publications

Cardiovascular phenotype; Familial hypercholesterolemia; Hypercholesterolemia, familial, 4 (FHCL4); not specified

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About LDLRAP1

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

View all LDLRAP1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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