rs73201506

This variant is located in the SCAF4 gene.

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GWAS Catalog Trait Associations (1)

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

alanine measurement

Richardson TG et al. “Characterising metabolomic signatures of lipid-modifying therapies through drug target mendelian randomisation.” Plos Biology 20(2):e3001547 (2022)

Allele A

OR 0.06

p 8.0e-9

N 115,078

Large GWAS

European

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ClinVar annotation

Benign

1 submitter

SCAF4-related disorder

View on ClinVar →

About SCAF4

This gene likely encodes a member of the arginine/serine-rich splicing factor family. A similar protein in Rat appears to bind the large subunit of RNA polymerase II and provide a link between transcription and pre-mRNA splicing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]

View all SCAF4 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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