rs10509554
This variant is located in the LIPN gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
lipase member N 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 0.75
p —
N 10,708
Large GWAS
European
Allele T
OR 1.02
p —
N 3,301
Large GWAS
European
blood protein amount
Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)
Allele T
OR 0.51
p 5.0e-178
N 5,342
Large GWAS
European
Emilsson V et al. “Co-regulatory networks of human serum proteins link genetics to disease.” Science (new York, N.y.) 361(6404):769-773 (2018)
Allele T
OR 0.54
p 7.0e-104
N 3,200
Large GWAS
European
level of lipase member N 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 T
OR 1.08
p 1.0e-77
N 466
Small GWAS
African American or Afro-Caribbean
level of neuroendocrine secretory protein 55 isoform Nesp55 (human) in blood
Kuliesius J et al. “Efficient candidate drug target discovery through proteogenomics in a Scottish cohort.” Communications Biology 8(1):1300 (2025)
Allele T
OR 0.90
p 1.0e-23
N 195
Small GWAS
European
level of tumor necrosis factor ligand superfamily member 6 in blood
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.04
p 4.0e-16
N 47,745
Large GWAS
European
▶ClinVar annotation
Benign★☆☆☆
1 submitterAbout LIPN
The gene encodes a lipase that is highly expressed in granular keratinocytes in the epidermis, and plays a role in the differentiation of keratinocytes. Mutations in this gene are associated with lamellar ichthyosis type 4. [provided by RefSeq, Dec 2011]
View all LIPN variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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