rs786205245

Orientation

minus

Stabilized

minus

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

Make rs786205245(A;A)

Make rs786205245(A;G)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

57554259

Gene

FECH

is a	snp
is	mentioned by
dbSNP	rs786205245
dbSNP (classic)	rs786205245
ClinGen	rs786205245
ebi	rs786205245
HLI	rs786205245
Exac	rs786205245
Gnomad	rs786205245
Varsome	rs786205245
LitVar	rs786205245
Map	rs786205245
PheGenI	rs786205245
Biobank	rs786205245
1000 genomes	rs786205245
hgdp	rs786205245
ensembl	rs786205245
geneview	rs786205245
scholar	rs786205245
google	rs786205245
pharmgkb	rs786205245
gwascentral	rs786205245
openSNP	rs786205245
23andMe	rs786205245
SNPshot	rs786205245
SNPdbe	rs786205245
MSV3d	rs786205245
GWAS Ctlg	rs786205245

Max Magnitude

0

ClinVar
Risk	rs786205245(A;A)
Alt	rs786205245(A;A)
Reference	Rs786205245(G;G)
Significance	Pathogenic
Disease	Erythropoietic protoporphyria
Variation	info
Gene	FECH
CLNDBN	Erythropoietic protoporphyria
Reversed	1
HGVS	NC_000018.9:g.55221491C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000582.4,