rs146694394
This is a protein-altering variant in the SYNJ2 gene.
▶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.
age-related hearing impairment
Ivarsdottir EV et al. “The genetic architecture of age-related hearing impairment revealed by genome-wide association analysis.” Communications Biology 4(1):706 (2021)
Allele T
OR 1.32
p 8.0e-14
N 713,633
Large GWAS
European
serum gamma-glutamyl transferase measurement
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 0.10
p 8.0e-13
N 394,642
Large GWAS
European
hearing loss
Cornejo-Sanchez DM et al. “Rare-variant association analysis reveals known and new age-related hearing loss genes.” European Journal of Human Genetics : Ejhg 31(6):638-647 (2023)
Allele T
OR 0.33
p 2.0e-8
N 135,011
Large GWAS
European
About SYNJ2
The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
View all SYNJ2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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