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rs2272783

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 likely erythropoietic protoporphyria symptoms
(C;T) 2.2 Low expression variant of FECH enzyme
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome18
Position57571588
GeneFECH
is asnp
is mentioned by
dbSNPrs2272783
ebirs2272783
HLIrs2272783
Exacrs2272783
Varsomers2272783
Maprs2272783
PheGenIrs2272783
hapmaprs2272783
1000 genomesrs2272783
hgdprs2272783
ensemblrs2272783
gopubmedrs2272783
geneviewrs2272783
scholarrs2272783
googlers2272783
pharmgkbrs2272783
gwascentralrs2272783
openSNPrs2272783
23andMers2272783
23andMe allrs2272783
SNP Nexus

SNPshotrs2272783
SNPdbers2272783
MSV3drs2272783
GWAS Ctlgrs2272783
GMAF0.1552
Max Magnitude4
rs2272783, also known as IVS3-48T-C, is a mutation in the ferrochelatase FECH gene leading to lowered expression of that enzyme.

When coupled in trans with a nonfunctional FECH allele, this is likely to lead to erythropoietic protoporphyria.

See also: OMIM 612386.0015

? (C;C) (C;T) (T;T) 28
ClinVar
Risk rs2272783(C;C)
Alt rs2272783(C;C)
Reference rs2272783(T;T)
Significance Pathogenic
Disease Erythropoietic protoporphyria
Variation info
Gene FECH
CLNDBN Erythropoietic protoporphyria
Reversed 1
HGVS NC_000018.9:g.55238820A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000000592.3,



[PMID 16385445OA-icon.png] Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria.