rs11239550
This is a intron variant variant in the MARCHF8 gene.
▶GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (5)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
reticulocyte count
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.03
p 4.0e-66
N 394,642
Large GWAS
European
mean corpuscular hemoglobin concentration
Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele G
OR 0.02
p 2.0e-11
N 408,112
Large GWAS
European
erythrocyte volume
Ganesh SK et al. “Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.” Nature Genetics 41(11):1191-8 (2009)
Allele G
OR 0.00
p 1.0e-10
N 24,167
Major Consortium StudyLarge GWAS
European
mean corpuscular hemoglobin
van Rooij FJA et al. “Genome-wide Trans-ethnic Meta-analysis Identifies Seven Genetic Loci Influencing Erythrocyte Traits and a Role for RBPMS in Erythropoiesis.” American Journal of Human Genetics 100(1):51-63 (2017)
Allele A
OR 0.00
p 6.0e-9
N 39,703
Meta-analysisLarge GWAS
multi-ancestry
reticulocyte amount
Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)
Allele G
OR 0.04
p 2.0e-79
N 394,642
Large GWAS
European
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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