rs28735437

This is a intron variant variant in the NTRK3 gene.

GWAS Catalog Trait Associations (3)

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

amount of NT-3 growth factor receptor (human) in blood

Allele C
OR 0.22
p 3.0e-197
N 47,745
Large GWAS
European

NT-3 growth factor receptor level

Pietzner M et al. Mapping the proteo-genomic convergence of human diseases. Science (new York, N.y.) 374(6569):eabj1541 (2021)
Allele C
OR 0.17
p 2.0e-20
N 10,708
Large GWAS
European

neurotrophin-3 measurement

Allele C
OR 0.12
p 1.0e-12
N 14,744
Large GWAS
multi-ancestry

About NTRK3

This gene encodes a member of the neurotrophic tyrosine receptor kinase (NTRK) family. This kinase is a membrane-bound receptor that, upon neurotrophin binding, phosphorylates itself and members of the MAPK pathway. Signalling through this kinase leads to cell differentiation and may play a role in the development of proprioceptive neurons that sense body position. Mutations in this gene have been associated with medulloblastomas, secretory breast carcinomas and other cancers. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2011]

View all NTRK3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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