rs2279434

This is a intron variant variant in the MARCHF8 gene.

▶

GWAS Catalog Trait Associations (2)

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

hemoglobin measurement, mean corpuscular hemoglobin

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)

Allele T

OR 0.13

p 4.0e-12

N 14,362

Large GWAS

East Asian

erythrocyte volume

Kamatani Y et al. “Genome-wide association study of hematological and biochemical traits in a Japanese population.” Nature Genetics 42(3):210-5 (2010)

Allele T

OR 0.12

p 3.0e-11

N 14,364

Large GWAS

East Asian

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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Loading comments…