rs786205248

Orientation

minus

Stabilized

minus

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

Make rs786205248(-;-)

Make rs786205248(-;TACAG)

Reference

GRCh38.p2 38.2/146

Chromosome

18

Position

57566461

Gene

FECH

is a	snp
is	mentioned by
dbSNP	rs786205248
dbSNP (classic)	rs786205248
ClinGen	rs786205248
ebi	rs786205248
HLI	rs786205248
Exac	rs786205248
Gnomad	rs786205248
Varsome	rs786205248
LitVar	rs786205248
Map	rs786205248
PheGenI	rs786205248
Biobank	rs786205248
1000 genomes	rs786205248
hgdp	rs786205248
ensembl	rs786205248
geneview	rs786205248
scholar	rs786205248
google	rs786205248
pharmgkb	rs786205248
gwascentral	rs786205248
openSNP	rs786205248
23andMe	rs786205248
SNPshot	rs786205248
SNPdbe	rs786205248
MSV3d	rs786205248
GWAS Ctlg	rs786205248

Max Magnitude

0

ClinVar
Risk	rs786205248(-;-)
Alt	rs786205248(-;-)
Reference	Rs786205248(TACAG;TACAG)
Significance	Pathogenic
Disease	Erythropoietic protoporphyria
Variation	info
Gene	FECH
CLNDBN	Erythropoietic protoporphyria
Reversed	1
HGVS	NC_000018.9:g.55233693_55233697delCTGTA
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000000590.4,