PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
rs2272783 in
FECH gene and
Mean Corpuscular Volume (result)
PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.
rs2272783 in
FECH gene and
PROTOPORPHYRIA, ERYTHROPOIETIC, 1
PMID 23364466 2013 Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.