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Article

Are minor alleles more likely to be risk alleles?

BMC medical genomics - 19 Jan 2018

Kido Takashi, Sikora-Wohlfeld Weronika, Kawashima Minae, Kikuchi Shinichi, Kamatani Naoyuki, Patwardhan Anil, Chen Richard, Sirota Marina, Kodama Keiichi, Hadley Dexter, Butte Atul J

Abstract excerpt

BACKGROUND: Genome-wide association studies (GWASs) have revealed relationships between over 57,000 genetic variants and diseases. However, unlike Mendelian diseases, complex diseases arise from the interplay of multiple genetic and environmental factors. Natural selection has led to a high tendency of risk alleles to be enriched in minor alleles in Mendelian diseases. Therefore, an allele that was previously...

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PMID: 29351777
DOI: 10.1186/s12920-018-0322-5
PMCID: PMC5775585

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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