rs743810

This variant is located in the TOM1 gene.

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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

not specified

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Research that mentions this SNP (1)

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Gene‐based SNP mapping of a psychotic bipolar affective disorder linkage region on 22q12.3: Association with HMG2L1 and TOM1
AssociationN=834Potash JB et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Gene-based SNP mapping of a 3 Mb region on chromosome 22q12.3 identified association with bipolar affective disorder, particularly psychotic BPAD. An 11-SNP haplotype spanning HMG2L1 and TOM1 showed association with BPAD (3-marker haplotype P=0.0011) and stronger association with psychotic BPAD (P=0.00049, mean OR=1.39). The study included 305 families with 529 affected individuals and 329 controls.

Traits studied:Bipolar I disorderBipolar affective disorderPsychotic bipolar affective disorderSchizoaffective disorder, bipolar type
PubMedDOIMetascience Observatory

About TOM1

This gene was identified as a target of the v-myb oncogene. The encoded protein shares its N-terminal domain in common with proteins associated with vesicular trafficking at the endosome. It is recruited to the endosomes by its interaction with endofin. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

View all TOM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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