rs3738402

This is a synonymous variant in the DISC1 gene — it does not change the protein's amino acid sequence.

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ClinVar annotation

Benign
1 submitter

DISC1-related disorder

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Research that mentions this SNP (1)

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G72/G30 (DAOA) and juvenile‐onset mood disorders
AssociationN=195Lissette Gomez et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This study examined NRG1, DAOA, and DISC1 gene polymorphisms and expression in 195 Chinese Han individuals (18 ultra-high risk for psychosis, 61 first-degree relatives, 55 first-episode psychosis, 61 healthy controls). Rs3918341 in DAOA was associated with UHR susceptibility (OR=3.68, p<0.001). Epistatic analysis showed interactions between NRG1 and DAOA, and NRG1 and DISC1 genes in UHR risk. NRG1 mRNA was significantly downregulated in the UHR group compared to healthy controls and first-episode psychosis patients.

Traits studied:First-episode psychosisSchizophrenia riskUltra-high risk for psychosis
PubMedDOIMetascience Observatory

About DISC1

This gene encodes a protein with multiple coiled coil motifs which is located in the nucleus, cytoplasm and mitochondria. The protein is involved in neurite outgrowth and cortical development through its interaction with other proteins. This gene is disrupted in a t(1;11)(q42.1;q14.3) translocation which segregates with schizophrenia and related psychiatric disorders in a large Scottish family. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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