rs10378
This is a protein-altering variant in the TMEM176A gene.
▶Research that mentions this SNP (1)
▶Exome sequences of multiplex, multigenerational families reveal schizophrenia risk loci with potential implications for neurocognitive performanceAssociationN=136Mark Z. Kos et al.(2017)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Exome sequencing of 136 individuals from 8 multiplex families identified two protein-altering variants associated with schizophrenia: rs10941112 (G175D, P=2.1×10⁻⁵) in AMACR (fatty acid metabolism gene) and rs10378 (L187F, P=2.8×10⁻⁵) in TMEM176A. rs10941112 showed significant cis effects on AMACR expression (P=5.5×10⁻⁴) in both study samples and GTEx brain tissues. Pathway analyses implicated genes involved in synaptic plasticity and NCAM-mediated neurite outgrowth.
About TMEM176A
Predicted to act upstream of or within negative regulation of dendritic cell differentiation. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
View all TMEM176A variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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