rs9864508

This is a intron variant variant in the MLF1 gene.

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GWAS Catalog Trait Associations (2)

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

right ventricular ejection fraction measurement

Schmidt AF et al. “Druggable proteins influencing cardiac structure and function: Implications for heart failure therapies and cancer cardiotoxicity.” Science Advances 9(17):eadd4984 (2023)

Allele T

OR —

p 3.0e-10

N 35,875

Large GWAS

European

heart failure

Enzan N et al. “Genome-wide analysis of heart failure yields insights into disease heterogeneity and enables prognostic prediction in the Japanese population.” Nature Communications 16(1):9680 (2025)

Allele C

OR 0.01

p 2.0e-8

N 703,001

Large GWAS

European

About MLF1

This gene encodes an oncoprotein which is thought to play a role in the phenotypic determination of hemopoetic cells. Translocations between this gene and nucleophosmin have been associated with myelodysplastic syndrome and acute myeloid leukemia. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2010]

View all MLF1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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