rs7783012

This variant is located in the FOXP2 gene.

GWAS Catalog Trait Associations (4)

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

age at first sexual intercourse measurement

Allele G
OR 0.02
p 1.0e-20
N 397,338
Large GWAS
European

body height

Allele A
OR 0.01
p 8.0e-17
N 394,642
Large GWAS
European
Allele A
OR 0.01
p 3.0e-15
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.01
p 2.0e-10
N 525,444
Large GWAS
multi-ancestry
Allele A
OR 0.01
p 7.0e-12
N 405,540
Large GWAS
European

cannabis dependence

Johnson EC et al. A large-scale genome-wide association study meta-analysis of cannabis use disorder. The Lancet. Psychiatry 7(12):1032-1045 (2020)
Allele A
OR
p 2.0e-9
N 384,032
Meta-analysisLarge GWAS
multi-ancestry

About FOXP2

This gene encodes a member of the forkhead/winged-helix (FOX) family of transcription factors. It is expressed in fetal and adult brain as well as in several other organs such as the lung and gut. The protein product contains a FOX DNA-binding domain and a large polyglutamine tract and is an evolutionarily conserved transcription factor, which may bind directly to approximately 300 to 400 gene promoters in the human genome to regulate the expression of a variety of genes. This gene is required for proper development of speech and language regions of the brain during embryogenesis, and may be involved in a variety of biological pathways and cascades that may ultimately influence language development. Mutations in this gene cause speech-language disorder 1 (SPCH1), also known as autosomal dominant speech and language disorder with orofacial dyspraxia. Multiple alternative transcripts encoding different isoforms have been identified in this gene.[provided by RefSeq, Feb 2010]

View all FOXP2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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