rs111937532

This is a 3 prime utr variant variant in the KMT5A gene.

GWAS Catalog Trait Associations (3)

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

body height

Allele A
OR 0.04
p 3.0e-19
N 405,540
Large GWAS
European

whole body water mass

Allele G
OR 0.03
p 4.0e-17
N 394,642
Large GWAS
European

appendicular lean mass

Hernandez Cordero AI et al. Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2. American Journal of Human Genetics 105(6):1222-1236 (2019)
Allele G
OR 0.17
p 2.0e-14
N 181,862
Large GWAS
European

About KMT5A

The protein encoded by this gene is a protein-lysine N-methyltransferase that can monomethylate Lys-20 of histone H4 to effect transcriptional repression of some genes. The encoded protein is required for cell proliferation and plays a role in chromatin condensation. [provided by RefSeq, May 2016]

View all KMT5A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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