rs4971088
This is a upstream gene variant variant in the KRTCAP2 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
mean corpuscular hemoglobin concentration
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.02
p 4.0e-12
N 583,936
Major Consortium StudyLarge GWAS
multi-ancestry
uterine fibroid
Kim J et al. “Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups.” Nature Communications 16(1):2273 (2025)
Allele A
OR 0.04
p 5.0e-8
N 434,152
Meta-analysisLarge GWAS
European
About KRTCAP2
Enables enzyme activator activity and protein-macromolecule adaptor activity. Involved in protein N-linked glycosylation via asparagine. Part of oligosaccharyltransferase complex. [provided by Alliance of Genome Resources, Jul 2025]
View all KRTCAP2 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…