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Article

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2021

Moore Bryn S, Luo Jonathan Z, Stepanchick Ann N, Mirshahi Tooraj

Abstract excerpt

PURPOSE: Genetic variation in MC1R is a main determinant of red hair color (RHC) phenotype and confers susceptibility to skin disorders. METHODS: We assessed the effects and function of MC1R variants identified in our clinical cohort of 135,947 participants with available exome sequencing using phenome-wide association scan (PheWAS). Expression and function of several variants were evaluated. RESULTS: We found 24...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34326492
DOI: 10.1038/s41436-021-01284-w
PMCID: PMC8633122

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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