rs143938602

This is a intron variant variant in the MYH16 gene.

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GWAS Catalog Trait Associations (1)

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

body height

Schoeler T et al. “Combining cross-sectional and longitudinal genomic approaches to identify determinants of cognitive and physical decline.” Nature Communications 16(1):4524 (2025)

Allele G

OR 0.04

p 4.0e-11

N 405,540

Large GWAS

European

About MYH16

The protein coding status of the MYH16 gene is uncertain. In nonhuman primates, this gene encodes a sarcomeric myosin heavy chain expressed in masticatory muscles, but has been hypothesized to be inactivated in humans. Stedman et al. (2004) [PubMed 15042088] suggest that the decrement in masticatory muscle size caused by the inactivation of MYH16 removed an evolutionary constraint on encephalization in early man. However, there is peptide support suggesting that a shorter protein containing only a myosin tail domain is expressed in human. [provided by RefSeq, Jul 2024]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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