rs740681
This variant is located in the FZR1 gene.
▶Research that mentions this SNP (1)
▶Whole‐exome sequencing and genome‐wide association studies identify novel sarcopenia risk genes in Han ChineseAssociationN=217,923Shu Ran et al.(2020)· Molecular Genetics & Genomic Medicine
Whole-exome sequencing in 101 Han Chinese subjects identified four SNPs significantly associated with whole lean body mass (WLBM), a heritable trait predicting sarcopenia: rs740681 in FZR1 (discovery p=1.66×10⁻⁶, replication p=0.05) and three SNPs in SOAT2 (rs2272303, rs11170413, rs2272302; p-values 3.20×10⁻⁴ to 9.13×10⁻⁴ in discovery, 2.90×10⁻⁴ to 3.10×10⁻⁴ in replication). Replication was performed in UK Biobank (N=217,822). Combined meta-analysis p-values ranged from 1.24×10⁻⁵ to 3.67×10⁻⁵, suggesting FZR1 and SOAT2 as novel sarcopenia risk genes with pleiotropic effects on body mass.
About FZR1
Enables ubiquitin-like ligase-substrate adaptor activity. Involved in anaphase-promoting complex-dependent catabolic process; mitotic G2 DNA damage checkpoint signaling; and positive regulation of ubiquitin protein ligase activity. Located in nuclear membrane and nucleoplasm. Implicated in developmental and epileptic encephalopathy 109. [provided by Alliance of Genome Resources, Jul 2025]
View all FZR1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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