rs174535

This is a synonymous variant in the MYRF gene — it does not change the protein's amino acid sequence.

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GWAS Catalog Trait Associations (64)

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

docosapentaenoic acid measurement

Lemaitre RN et al. “Genetic loci associated with plasma phospholipid n-3 fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.” Plos Genetics 7(7):e1002193 (2011)
Allele T
OR —
β 0.070
p 1.0e-151
N 8,866
Meta-analysisMajor Consortium Study
European

cholesteryl ester 20:5 measurement

Harshfield EL et al. “Genome-wide analysis of blood lipid metabolites in over 5000 South Asians reveals biological insights at cardiometabolic disease loci.” Bmc Medicine 19(1):232 (2021)
Allele C
OR 0.30
p 9.0e-141
N 13,814
Large GWAS
European
Montasser ME et al. “An Amish founder population reveals rare-population genetic determinants of the human lipidome.” Communications Biology 5(1):334 (2022)
Allele C
OR 0.47
p 2.0e-12
N 650
Small GWAS
European

level of Phosphatidylcholine (O-16:1_20:4) 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 C
OR 0.40
p 1.0e-107
N 6,025
Large GWAS
European
Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)
Allele C
OR 0.40
p 1.0e-58
N 4,642
Large GWAS
European

1-arachidonoylglycerophosphocholine measurement

Shin SY et al. “An atlas of genetic influences on human blood metabolites.” Nature Genetics 46(6):543-550 (2014)
Allele T
OR 0.06
p 2.0e-94
N 7,507
Large GWAS
European

1-meadoyl-GPC (20:3n9) 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 C
OR 0.34
p 3.0e-64
N 6,136
Large GWAS
European
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
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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