rs7943728

This variant is located in the MYRF gene.

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GWAS Catalog Trait Associations (15)

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

mean reticulocyte volume

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.03
p 1.0e-29
N 394,642
Large GWAS
European

serum metabolite level

Li Y et al. “Genome-Wide Association Studies of Metabolites in Patients with CKD Identify Multiple Loci and Illuminate Tubular Transport Mechanisms.” Journal of the American Society of Nephrology : Jasn 29(5):1513-1524 (2018)
Allele A
OR 0.48
p 4.0e-19
N 1,143
Large GWAS
European

platelet volume

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.05
p 6.0e-19
N 476,837
Major Consortium StudyLarge GWAS
multi-ancestry

level of Phosphatidylcholine (18:0_20:3) in blood serum

Ottensmann L et al. “Genome-wide association analysis of plasma lipidome identifies 495 genetic associations.” Nature Communications 14(1):6934 (2023)
Allele A
OR 0.24
p 7.0e-19
N 7,169
Large GWAS
European

lysophosphatidylcholine measurement

Lotta LA et al. “A cross-platform approach identifies genetic regulators of human metabolism and health.” Nature Genetics 53(1):54-64 (2021)
Allele A
OR 8.49
p 2.0e-17
N 9,363
Large GWAS
European

level of neuronal-specific septin-3 in blood

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele A
OR 0.05
p 2.0e-14
N 47,745
Large GWAS
European

neutrophil count

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)
Allele A
OR 0.02
p 7.0e-14
N 432,666
Large GWAS
multi-ancestry

dihomo-linolenoylcarnitine (C20:3n3 or 6) measurement

Yin X et al. “Genome-wide association studies of metabolites in Finnish men identify disease-relevant loci.” Nature Communications 13(1):1644 (2022)
Allele A
OR 0.21
p 4.0e-11
N 6,136
Large GWAS
European
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ClinVar annotation

Benign★★★☆
3 submitters1 publication

not provided; Cholangiocarcinoma

View on ClinVar →

About MYRF

This gene encodes a transcription factor that is required for central nervous system myelination and may regulate oligodendrocyte differentiation. It is thought to act by increasing the expression of genes that effect myelin production but may also directly promote myelin gene expression. Loss of a similar gene in mouse models results in severe demyelination. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]

View all MYRF variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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