rs6503417

This is a upstream gene variant variant in the NMT1 gene.

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GWAS Catalog Trait Associations (2)

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

white matter hyperintensity measurement

Sargurupremraj M et al. “Cerebral small vessel disease genomics and its implications across the lifespan.” Nature Communications 11(1):6285 (2020)
Allele C
OR 0.05
p 3.0e-19
N 48,454
Large GWAS
European

cerebral small vessel disease

Mishra A et al. “Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate.” Brain : a Journal of Neurology 145(6):1992-2007 (2022)
Allele C
OR 1.20
p 3.0e-10
N 19,721
Large GWAS
European

About NMT1

Myristate, a rare 14-carbon saturated fatty acid, is cotranslationally attached by an amide linkage to the N-terminal glycine residue of cellular and viral proteins with diverse functions. N-myristoyltransferase (NMT; EC 2.3.1.97) catalyzes the transfer of myristate from CoA to proteins. N-myristoylation appears to be irreversible and is required for full expression of the biologic activities of several N-myristoylated proteins, including the alpha subunit of the signal-transducing guanine nucleotide-binding protein (G protein) GO (GNAO1; MIM 139311) (Duronio et al., 1992 [PubMed 1570339]).[supplied by OMIM, Nov 2008]

View all NMT1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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