rs4930561

This is a intron variant variant in the KMT5B gene.

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GWAS Catalog Trait Associations (2)

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

acute myeloid leukemia

Lin WY et al. “Genome-wide association study identifies susceptibility loci for acute myeloid leukemia.” Nature Communications 12(1):6233 (2021)

Allele A

OR 1.17

p 2.0e-8

N 9,801

Large GWAS

European

serum IgG glycosylation measurement

Lauc G et al. “Loci associated with N-glycosylation of human immunoglobulin G show pleiotropy with autoimmune diseases and haematological cancers.” Plos Genetics 9(1):e1003225 (2013)

Allele G

OR 0.17

p 1.0e-8

N 2,247

Large GWAS

European

About KMT5B

This gene encodes a protein that contains a SET domain. SET domains appear to be protein-protein interaction domains that mediate interactions with a family of proteins that display similarity with dual-specificity phosphatases (dsPTPases). The function of this gene has not been determined. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]

View all KMT5B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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