Expressive

rs11983656 - TAS2R16 - SLC13A1

Magnitude 4.5 · 2 studies on file

Reported associations

  • The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip - Unknown journal (n.d.) · Unknown authors · PubMed 33817668

    ABSTRACT: Summary Nonsyndromic orofacial clefts (OFCs) are a common birth defect and are phenotypically heterogenous in the structure affected by the cleft-cleft lip (CL) and cleft lip and palate (CLP)-as well as other features, such as the severity of the cleft. Here, we focus on bilateral and unilateral clefts as one dimension of OFC severity, because the genetic architecture of these subtypes is not well understood. We tested for subtype-specific genetic associations in 44 bilateral CL (BCL) individuals, 434 unilateral CL (UCL) individuals, 530 bilateral CLP individuals (BCLP), 1,123 unilateral CLP (UCLP) individuals, and unrelated control individuals (N = 1,626), using a mixed-model approach. While no novel loci were found, the genetic architecture of UCL was distinct compared to B

  • A saturated map of common genetic variants associated with human height - Unknown journal (n.d.) · Unknown authors · PubMed 36224396

    ABSTRACT: Common single-nucleotide polymorphisms (SNPs) are predicted to collectively explain 40-50% of phenotypic variation in human height, but identifying the specific variants and associated regions requires huge sample sizes. Here, using data from a genome-wide association study of 5.4 million individuals of diverse ancestries, we show that 12,111 independent SNPs that are significantly associated with height account for nearly all of the common SNP-based heritability. These SNPs are clustered within 7,209 non-overlapping genomic segments with a mean size of around 90 kb, covering about 21% of the genome. The density of independent associations varies across the genome and the regions of increased density are enriched for biologically relevant genes. In out-of-sample estimation

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