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Article

Properties of human genes guided by their enrichment in rare and common variants.

Human mutation - 1 Mar 2018

Alhuzimi Eman, Leal Luis G, Sternberg Michael J E, David Alessia

Abstract excerpt

We analyzed 563,099 common (minor allele frequency, MAF≥0.01) and rare (MAF < 0.01) genetic variants annotated in ExAC and UniProt and 26,884 disease-causing variants from ClinVar and UniProt occurring in the coding region of 17,975 human protein-coding genes. Three novel sets of genes were identified: those enriched in rare variants (n = 32 genes), in common variants (n = 282 genes), and in disease-causing...

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Identifiers

PMID: 29197136
DOI: 10.1002/humu.23377
PMCID: PMC5838408

Genes

MAF
AOC2
IQCH
MAMDC4
PITPNM1
SPAG5
SRRM2
TRRAP
USP54

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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