rs2734331

This is a synonymous variant in the SKIV2L gene — it does not change the protein's amino acid sequence.

GWAS Catalog Trait Associations (1)

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

X-11470 measurement

Allele G
OR 0.45
p 9.0e-29
N 8,809
Large GWAS
European
Shin SY et al. An atlas of genetic influences on human blood metabolites. Nature Genetics 46(6):543-550 (2014)
Allele G
OR 0.07
p 7.0e-13
N 7,271
Large GWAS
European

ClinVar annotation

Benign★★★
4 submitters2 publications

Trichohepatoenteric syndrome 2 (THES2)

View on ClinVar →

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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