rs202147607

Orientation

plus

Stabilized

plus

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

Make rs202147607(C;C)

Make rs202147607(C;T)

Reference

GRCh38.p2 38.2/144

Chromosome

18

Position

57551312

Gene

FECH

is a	snp
is	mentioned by
dbSNP	rs202147607
dbSNP (classic)	rs202147607
ClinGen	rs202147607
ebi	rs202147607
HLI	rs202147607
Exac	rs202147607
Gnomad	rs202147607
Varsome	rs202147607
LitVar	rs202147607
Map	rs202147607
PheGenI	rs202147607
Biobank	rs202147607
1000 genomes	rs202147607
hgdp	rs202147607
ensembl	rs202147607
geneview	rs202147607
scholar	rs202147607
google	rs202147607
pharmgkb	rs202147607
gwascentral	rs202147607
openSNP	rs202147607
23andMe	rs202147607
SNPshot	rs202147607
SNPdbe	rs202147607
MSV3d	rs202147607
GWAS Ctlg	rs202147607

Max Magnitude

0

ClinVar
Risk	rs202147607(C;C)
Alt	rs202147607(C;C)
Reference	Rs202147607(T;T)
Significance	Pathogenic
Disease	Erythropoietic protoporphyria
Variation	info
Gene	FECH
CLNDBN	Erythropoietic protoporphyria
Reversed	0
HGVS	NC_000018.9:g.55218544T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000583.4,