rs410851

This variant is located in the SKIC2 gene.

▶

GWAS Catalog Trait Associations (6)

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

eosinophil count

Höglund J et al. “Gene-Based Variant Analysis of Whole-Exome Sequencing in Relation to Eosinophil Count.” Frontiers in Immunology 13:862255 (2022)
Allele T
OR 0.05
p 1.0e-38
N 365,954
Large GWAS
European

lean body mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele C
OR 0.02
p 5.0e-37
N 337,739
Large GWAS
European

diastolic blood pressure

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 0.02
p 3.0e-21
N 485,677
Large GWAS
multi-ancestry

mean arterial pressure

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 0.02
p 1.0e-16
N 506,365
Large GWAS
multi-ancestry

BMI-adjusted hip circumference

Christakoudi S et al. “GWAS of allometric body-shape indices in UK Biobank identifies loci suggesting associations with morphogenesis, organogenesis, adrenal cell renewal and cancer.” Scientific Reports 11(1):10688 (2021)
Allele T
OR 0.02
p 5.0e-12
N 219,872
Major Consortium StudyLarge GWAS
European
▶

ClinVar annotation

Benign★★★☆
6 submitters3 publications

Trichohepatoenteric syndrome 2; not specified; not provided

View on ClinVar →

About SKIC2

DEAD box proteins, characterized by the conserved motif Asp-Glu-Ala-Asp (DEAD), are putative RNA helicases. They are implicated in a number of cellular processes involving alteration of RNA secondary structure such as translation initiation, nuclear and mitochondrial splicing, and ribosome and spliceosome assembly. Based on their distribution patterns, some members of this family are believed to be involved in embryogenesis, spermatogenesis, and cellular growth and division. This gene encodes a DEAD box protein, which is a human homologue of yeast SKI2 and may be involved in antiviral activity by blocking translation of poly(A) deficient mRNAs. This gene is located in the class III region of the major histocompatibility complex. [provided by RefSeq, Jul 2008]

View all SKIC2 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…