rs2272783

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

18

Position

57571588

Gene

FECH

is a	snp
is	mentioned by
dbSNP	rs2272783
dbSNP (classic)	rs2272783
ClinGen	rs2272783
ebi	rs2272783
HLI	rs2272783
Exac	rs2272783
Gnomad	rs2272783
Varsome	rs2272783
LitVar	rs2272783
Map	rs2272783
PheGenI	rs2272783
Biobank	rs2272783
1000 genomes	rs2272783
hgdp	rs2272783
ensembl	rs2272783
geneview	rs2272783
scholar	rs2272783
google	rs2272783
pharmgkb	rs2272783
gwascentral	rs2272783
openSNP	rs2272783
23andMe	rs2272783
SNPshot	rs2272783
SNPdbe	rs2272783
MSV3d	rs2272783
GWAS Ctlg	rs2272783

GMAF

0.1552

Max Magnitude

4

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 Erythema Jaundice
Variation	info
Gene	FECH
CLNDBN	Erythropoietic protoporphyria Erythema Jaundice
Reversed	1
HGVS	NC_000018.9:g.55238820A>G
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000592.3, RCV000414979.1,

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