rs786205247

Orientation

minus

Stabilized

minus

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

Make rs786205247(A;G)

Make rs786205247(G;G)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

57580062

Gene

FECH

is a	snp
is	mentioned by
dbSNP	rs786205247
dbSNP (classic)	rs786205247
ClinGen	rs786205247
ebi	rs786205247
HLI	rs786205247
Exac	rs786205247
Gnomad	rs786205247
Varsome	rs786205247
LitVar	rs786205247
Map	rs786205247
PheGenI	rs786205247
Biobank	rs786205247
1000 genomes	rs786205247
hgdp	rs786205247
ensembl	rs786205247
geneview	rs786205247
scholar	rs786205247
google	rs786205247
pharmgkb	rs786205247
gwascentral	rs786205247
openSNP	rs786205247
23andMe	rs786205247
SNPshot	rs786205247
SNPdbe	rs786205247
MSV3d	rs786205247
GWAS Ctlg	rs786205247

Max Magnitude

0

ClinVar
Risk	rs786205247(G;G)
Alt	rs786205247(G;G)
Reference	Rs786205247(A;A)
Significance	Pathogenic
Disease	Erythropoietic protoporphyria
Variation	info
Gene	FECH
CLNDBN	Erythropoietic protoporphyria
Reversed	1
HGVS	NC_000018.9:g.55247294T>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000589.4,