rs111730030 - RPL12P42
Magnitude 2.2 · 2 studies on file
Reported associations
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Genome-wide association study identifies 74 loci associated with educational attainment - Unknown journal (n.d.) · Unknown authors · PubMed 27225129
ABSTRACT: Summary Educational attainment (EA) is strongly influenced by social and other environmental factors, but genetic factors are also estimated to account for at least 20% of the variation across individuals. We report the results of a genome-wide association study (GWAS) for EA that extends our earlier discovery sample of 101,069 individuals to 293,723 individuals, and a replication in an independent sample of 111,349 individuals from the UK Biobank. We now identify 74 genome-wide significant loci associated with number of years of schooling completed. Single-nucleotide polymorphisms (SNPs) associated with educational attainment are disproportionately found in genomic regions regulating gene expression in the fetal brain. Candidate genes are preferentially expressed in neural tissu
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Association analysis identifies 65 new breast cancer risk loci - Unknown journal (n.d.) · Unknown authors · PubMed 29059683
ABSTRACT: Breast cancer risk is influenced by rare coding variants in susceptibility genes such as BRCA1 and many common, mainly non-coding variants. However, much of the genetic contribution to breast cancer risk remains unknown. We report results from a genome-wide association study (GWAS) of breast cancer in 122,977 cases and 105,974 controls of European ancestry and 14,068 cases and 13,104 controls of East Asian ancestry. We identified 65 new loci associated with overall breast cancer at p<5x10-8. The majority of credible risk SNPs in the new loci fall in distal regulatory elements, and by integrating in-silico data to predict target genes in breast cells at each locus, we demonstrate a strong overlap between candidate target genes and somatic driver genes in breast tumours. We also fi
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