rs3802548

This variant is located in the MARCHF8 gene.

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GWAS Catalog Trait Associations (5)

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

apolipoprotein A 1 measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)
Allele T
OR 0.03
p 9.0e-50
N 393,193
Large GWAS
European
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele T
OR 0.03
p 9.0e-48
N 394,642
Large GWAS
European

carnitine measurement

Surendran P et al. “Rare and common genetic determinants of metabolic individuality and their effects on human health.” Nature Medicine 28(11):2321-2332 (2022)
Allele A
OR 0.09
p 3.0e-15
N 14,296
Large GWAS
European

alcohol drinking, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele A
OR —
p 4.0e-11
N 127,326
Large GWAS
multi-ancestry

reticulocyte count

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele A
OR 0.03
p 5.0e-9
N 408,112
Large GWAS
European

alcohol consumption quality, high density lipoprotein cholesterol measurement

de Vries PS et al. “Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.” American Journal of Epidemiology 188(6):1033-1054 (2019)
Allele A
OR —
p 2.0e-8
N 71,394
Large GWAS
multi-ancestry
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Research that mentions this SNP (1)

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Association studies of ALOX5 and bone mineral density in healthy adults
AssociationN=2,915Foroud T. et al.(2008)· Osteoporosis International

Association study of 15 SNPs in ALOX5 with bone mineral density in 1,688 European American women, 512 African American women, and 715 European American men. Three SNPs showed nominal significance (p≤0.05) with lumbar spine or femoral neck BMD, but flanking SNPs in high linkage disequilibrium failed to replicate these associations, suggesting false positives. Authors conclude that variation in ALOX5 is unlikely to be a clinically significant risk factor for peak BMD.

Traits studied:Bone mineral densityFemoral neck BMDLumbar spine BMD
PubMedDOIMetascience Observatory

About MARCHF8

MARCH8 is a member of the MARCH family of membrane-bound E3 ubiquitin ligases (EC 6.3.2.19). MARCH enzymes add ubiquitin (see MIM 191339) to target lysines in substrate proteins, thereby signaling their vesicular transport between membrane compartments. MARCH8 induces the internalization of several membrane glycoproteins (Goto et al., 2003 [PubMed 12582153]; Bartee et al., 2004 [PubMed 14722266]).[supplied by OMIM, Apr 2010]

View all MARCHF8 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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