rs112037309 - ARHGEF38, INTS12

Magnitude 2.2 · 1 study on file

Reported associations

• Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits - Unknown journal (n.d.) · Unknown authors · PubMed 28548082

  ABSTRACT: Next-generation association studies can be empowered by sequence-based imputation and by studying founder populations. Here we report ∼9.5 million variants from whole-genome sequencing (WGS) of a Cretan-isolated population, and show enrichment of rare and low-frequency variants with predicted functional consequences. We use a WGS-based imputation approach utilizing 10,422 reference haplotypes to perform genome-wide association analyses and observe 17 genome-wide significant, independent signals, including replicating evidence for association at eight novel low-frequency variant signals. Two novel cardiometabolic associations are at lead variants unique to the founder population sequences: chr16:70790626 (high-density lipoprotein levels beta −1.71 (SE 0.25), P=1.57 × 10−11,

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