rs174536
This is a downstream gene variant variant in the MYRF gene.
▶GWAS Catalog Trait Associations (39)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (39)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
level of Phosphatidylcholine (O-18:0_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 0.31
p 2.0e-72
N 6,956
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 0.32
p 1.0e-46
N 4,642
Large GWAS
European
alpha-linolenic 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 A
OR —
β 0.020
p 1.0e-63
N 8,866
Meta-analysisMajor Consortium Study
European
level of Phosphatidylcholine (O-18:1_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 0.28
p 4.0e-63
N 7,173
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 0.29
p 5.0e-39
N 4,642
Large GWAS
European
phosphatidylcholine diacyl C36:5 measurement
Draisma HHM et al. “Genome-wide association study identifies novel genetic variants contributing to variation in blood metabolite levels.” Nature Communications 6:7208 (2015)
Allele A
OR 0.13
p 5.0e-59
N 7,474
Large GWAS
European
level of phosphatidylcholine
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 14.99
p 8.0e-51
N 15,967
Large GWAS
European
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 A
OR 0.08
p 2.0e-20
N 5,662
Large GWAS
South Asian
Cadby G et al. “Comprehensive genetic analysis of the human lipidome identifies loci associated with lipid homeostasis with links to coronary artery disease.” Nature Communications 13(1):3124 (2022)
Allele A
OR 0.15
p 8.0e-11
N 4,492
Large GWAS
European
level of Phosphatidylethanolamine (O-18:1_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 0.25
p 1.0e-49
N 7,172
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 0.27
p 8.0e-34
N 4,642
Large GWAS
European
arachidonoylcholine measurement
Hysi PG et al. “Metabolome Genome-Wide Association Study Identifies 74 Novel Genomic Regions Influencing Plasma Metabolites Levels.” Metabolites 12(1) (2022)
Allele C
OR 0.23
p 2.0e-44
N 8,809
Large GWAS
European
1-myristoyl-2-arachidonoyl-GPC (14:0/20:4) measurement
Feofanova EV et al. “Whole-Genome Sequencing Analysis of Human Metabolome in Multi-Ethnic Populations.” Nature Communications 14(1):3111 (2023)
Allele C
OR 0.28
p 5.0e-36
N 4,685
Large GWAS
multi-ancestry
non-alcoholic fatty liver disease
Du M et al. “Cross-trait genomic modeling reveals the polygenic architecture and systemic impact of MASLD.” Science Advances 12(7):eaeb5665 (2026)
Allele A
OR 0.05
p 1.0e-35
N 122,644
Large GWAS
European
heart rate
Eppinga RN et al. “Identification of genomic loci associated with resting heart rate and shared genetic predictors with all-cause mortality.” Nature Genetics 48(12):1557-1563 (2016)
Allele C
OR 0.40
p 2.0e-30
N 134,251
Large GWAS
multi-ancestry
▶ClinVar annotation
Benign★★★☆
2 submitters1 publicationAbout 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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