rs3911893

This variant is located in the SKIC2 gene.

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GWAS Catalog Trait Associations (2)

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

blood protein amount

Gudjonsson A et al. “A genome-wide association study of serum proteins reveals shared loci with common diseases.” Nature Communications 13(1):480 (2022)

Allele A

OR 0.51

p 2.0e-35

N 5,366

Large GWAS

European

migraine disorder

Choquet H et al. “New and sex-specific migraine susceptibility loci identified from a multiethnic genome-wide meta-analysis.” Communications Biology 4(1):864 (2021)

Allele A

OR 0.92

p 7.0e-9

N 889,018

Meta-analysisLarge GWAS

European

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ClinVar annotation

Benign★★★☆

3 submitters2 publications

Trichohepatoenteric syndrome 2; not provided; not specified

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]