Original paper
Rare coding variants and X-linked loci associated with age at menarche
Abstract
More than 100 loci have been identified for age at menarche by genome-wide association studies; however, collectively these explain only ∼3% of the trait variance. Here we test two overlooked sources of variation in 192,974 European ancestry women: low-frequency protein-coding variants and X-chromosome variants. Five missense/nonsense variants (in ALMS1 / LAMB2 / TNRC6A/TACR3/PRKAG1 ) are associated with age at menarche (minor allele frequencies...
Paper Details
Title
Rare coding variants and X-linked loci associated with age at menarche
Published Date
Aug 4, 2015
Journal
Volume
6
Issue
1
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Notes
History