rs28576953
This is a intron 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.
GWAS Catalog Trait Associations (3)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
appendicular lean mass
Pei YF et al. “The genetic architecture of appendicular lean mass characterized by association analysis in the UK Biobank study.” Communications Biology 3(1):608 (2020)
Allele T
OR 0.03
p 6.0e-38
N 450,243
Major Consortium StudyLarge GWAS
European
insomnia measurement
Jansen PR et al. “Genome-wide analysis of insomnia in 1,331,010 individuals identifies new risk loci and functional pathways.” Nature Genetics 51(3):394-403 (2019)
Allele C
OR 1.07
p 1.0e-12
N 1,331,010
Large GWAS
European
Uterine leiomyoma
Sliz E et al. “Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata.” Nature Communications 14(1):542 (2023)
Allele T
OR 0.94
p 9.0e-10
N 367,903
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.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…