rs7781370
This variant is located in the SEM1 gene.
▶GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
GWAS Catalog Trait Associations (2)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
body height
Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 8.0e-21
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian
bone tissue density
Rivadeneira F et al. “Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies.” Nature Genetics 41(11):1199-206 (2009)
Allele T
OR 0.08
p 5.0e-12
N 19,195
Meta-analysisLarge GWAS
European
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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