rs12042938

This is a intron variant variant in the DISC1 gene.

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GWAS Catalog Trait Associations (2)

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

neuroimaging measurement, South Texas Assessment of Neurocognition

Carless MA et al. “Impact of DISC1 variation on neuroanatomical and neurocognitive phenotypes.” Molecular Psychiatry 16(11):1096-104, 1063 (2011)
Allele C
OR —
p 4.0e-36
N 857
Small GWAS
Hispanic or Latin American

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele C
OR 0.00
p 1.0e-8
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

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]

View all DISC1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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