rs79710863

This is a 3 prime utr variant variant in the ZEB2 gene.

GWAS Catalog Trait Associations (5)

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

mean corpuscular hemoglobin

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.10
p 2.0e-53
N 478,500
Large GWAS
multi-ancestry

mean corpuscular hemoglobin concentration

Allele T
OR
p 1.0e-41
N 630,125
Large GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.06
p 5.0e-22
N 485,950
Large GWAS
multi-ancestry

erythrocyte count

Allele T
OR 0.05
p 5.0e-37
N 928,679
Large GWAS
multi-ancestry
Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele T
OR 0.05
p 5.0e-19
N 153,512
Large GWAS
East Asian

erythrocyte volume

Sakaue S et al. A cross-population atlas of genetic associations for 220 human phenotypes. Nature Genetics 53(10):1415-1424 (2021)
Allele C
OR 0.08
p 6.0e-35
N 480,305
Large GWAS
multi-ancestry
Allele C
OR
p 2.0e-28
N 696,882
Large GWAS
multi-ancestry

red blood cell density

Allele T
OR 0.06
p 6.0e-19
N 150,708
Large GWAS
East Asian

About ZEB2

The protein encoded by this gene is a member of the Zfh1 family of 2-handed zinc finger/homeodomain proteins. It is located in the nucleus and functions as a DNA-binding transcriptional repressor that interacts with activated SMADs. Mutations in this gene are associated with Hirschsprung disease/Mowat-Wilson syndrome. Alternatively spliced transcript variants have been found for this gene.[provided by RefSeq, Jan 2010]

View all ZEB2 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

Sign in to join the discussion.

Loading comments…