rs2269219

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs2269219(C;T)

Make rs2269219(T;T)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

57580222

Gene

FECH

is a	snp
is	mentioned by
dbSNP	rs2269219
dbSNP (classic)	rs2269219
ClinGen	rs2269219
ebi	rs2269219
HLI	rs2269219
Exac	rs2269219
Gnomad	rs2269219
Varsome	rs2269219
LitVar	rs2269219
Map	rs2269219
PheGenI	rs2269219
Biobank	rs2269219
1000 genomes	rs2269219
hgdp	rs2269219
ensembl	rs2269219
geneview	rs2269219
scholar	rs2269219
google	rs2269219
pharmgkb	rs2269219
gwascentral	rs2269219
openSNP	rs2269219
23andMe	rs2269219
SNPshot	rs2269219
SNPdbe	rs2269219
MSV3d	rs2269219
GWAS Ctlg	rs2269219

Max Magnitude

0

aka c.68-23C>T and also c.68-23C>A

Originally considered pathogenic for erythropoietic protoporphyria; now considered likely to be benign.

ClinVar
Risk	rs2269219(A;A) rs2269219(T;T)
Alt	rs2269219(A;A) rs2269219(T;T)
Reference	Rs2269219(C;C)
Significance	Pathogenic
Disease	Erythropoietic protoporphyria Erythema Jaundice
Variation	info
Gene	FECH
CLNDBN	Erythropoietic protoporphyria Erythema Jaundice
Reversed	1
HGVS	NC_000018.9:g.55247454G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000580.3, RCV000415389.1,