rs202055590

This variant is located in the SEM1 gene.

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GWAS Catalog Trait Associations (1)

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

calvaria morphology trait

Goovaerts S et al. “Joint multi-ancestry and admixed GWAS reveals the complex genetics behind human cranial vault shape.” Nature Communications 14(1):7436 (2023)

Allele A

OR —

p 4.0e-31

N 6,772

Large GWAS

multi-ancestry

About SEM1

The product of this gene has been localized within the split hand/split foot malformation locus SHFM1 at chromosome 7. It has been proposed to be a candidate gene for the autosomal dominant form of the heterogeneous limb developmental disorder split hand/split foot malformation type 1. In addition, it has been shown to directly interact with BRCA2. It also may play a role in the completion of the cell cycle. [provided by RefSeq, Jul 2008]

View all SEM1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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