ClinVar Miner

Submissions for variant NM_000777.5(CYP3A5):c.319-1630C>T (rs4646450)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Population Biology Research Unit, Department of Anatomy and Anthropology, Sackler Faculty of Medicine,Tel Aviv University RCV000167563 SCV000212129 association appendicular lean mass relative to body height no assertion criteria provided reference population X12063 is an endogenous molecule, one of 360 metabolites identified by Metabolon Inc. using ultrahigh performance liquid chromatography and mass spectrometry. X12063 circulating levels were highly significantly associated with skeletal muscle mass, as assessed by appendicular lean mass relative to body height (p=2.85E-42). GWAS demonstrated that X12063 was associated with 7q22.1 genomic region with top p-value 4.987E-50 for SNP rs4646450:G>A.

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