rs17514136

▶

GWAS Catalog Trait Associations (1)

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

ficolin-1 measurement

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.13
p 3.0e-102
N 47,745
Large GWAS
European
▶

Research that mentions this SNP (1)

▶
Cost-effective procedures for genotyping of human FCN2 gene single nucleotide polymorphisms
MethodsN=102Agnieszka Szala et al.(2013)· Immunogenetics

This paper describes cost-effective PCR and PCR-RFLP genotyping methods for four functional FCN2 gene SNPs: -64 A>C (rs7865453), -4 A>G (rs17514136), +6359 C>T (rs17549193), and +6424 G>T (rs7851696). These SNPs are associated with L-ficolin serum levels and sugar-binding capacity, with variant alleles at -64/-6424 linked to low L-ficolin levels while -4/+6359 variants correspond to higher values. The methods were validated on 102 healthy Polish adults and show 100% concordance with direct sequencing.

Traits studied:Bacterial infectionsCutaneous leishmaniasisCystic fibrosisCytomegalovirus infectionHepatitis BHepatocellular carcinomaL-ficolin serum levelsL-ficolin sugar-binding capacityPseudomonas aeruginosa colonizationRheumatic feverRheumatic heart diseaseSchistosomiasisStaphylococcal peritonitis
PubMedDOIMetascience Observatory

This variant is in our database but has no known associations or PRS memberships yet.

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…