rs2306029
This is a variant in the LRP4 gene that changes a serine to an glycine.
▶GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
protein measurement
Pietzner M et al. “Mapping the proteo-genomic convergence of human diseases.” Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele T
OR 0.39
p 8.0e-215
N 10,708
Large GWAS
European
Western D et al. “Proteogenomic analysis of human cerebrospinal fluid identifies neurologically relevant regulation and implicates causal proteins for Alzheimer's disease.” Nature Genetics 56(12):2672-2684 (2024)
Allele T
OR 0.61
p 2.0e-116
N 2,721
Large GWAS
European
level of low-density lipoprotein receptor-related protein 4 in blood serum
Surapaneni A et al. “Identification of 969 protein quantitative trait loci in an African American population with kidney disease attributed to hypertension.” Kidney International 102(5):1167-1177 (2022)
Allele C
OR 0.56
p 1.0e-12
N 466
Small GWAS
African American or Afro-Caribbean
ATPase ASNA1 measurement
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele C
OR 0.54
p 1.0e-9
N 197
Small GWAS
European
▶ClinVar annotation
Benign★★★☆
6 submitters2 publicationsCenani-Lenz syndactyly syndrome; Congenital myasthenic syndrome 17; Sclerosteosis 2 (SOST2)
View on ClinVar →About LRP4
This gene encodes a member of the low-density lipoprotein receptor-related protein family. The encoded protein may be a regulator of Wnt signaling. Mutations in this gene are associated with Cenani-Lenz syndrome. [provided by RefSeq, May 2010]
View all LRP4 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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