rs397514764

Orientation

plus

Stabilized

plus

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

Make rs397514764(-;-)

Make rs397514764(-;AGCGAATGGG)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45012271

Gene	HECTD3, UROD

is a	snp
is	mentioned by
dbSNP	rs397514764
dbSNP (classic)	rs397514764
ClinGen	rs397514764
ebi	rs397514764
HLI	rs397514764
Exac	rs397514764
Gnomad	rs397514764
Varsome	rs397514764
LitVar	rs397514764
Map	rs397514764
PheGenI	rs397514764
Biobank	rs397514764
1000 genomes	rs397514764
hgdp	rs397514764
ensembl	rs397514764
geneview	rs397514764
scholar	rs397514764
google	rs397514764
pharmgkb	rs397514764
gwascentral	rs397514764
openSNP	rs397514764
23andMe	rs397514764
SNPshot	rs397514764
SNPdbe	rs397514764
MSV3d	rs397514764
GWAS Ctlg	rs397514764

Max Magnitude

0

ClinVar
Risk	rs397514764(-;-)
Alt	rs397514764(-;-)
Reference	Rs397514764(AGCGAATGGG;AGCGAATGGG)
Significance	Pathogenic
Disease	Porphyria cutanea tarda
Variation	info
Gene	HECTD3 UROD
CLNDBN	Porphyria cutanea tarda
Reversed	0
HGVS	NC_000001.10:g.45477943_45477952delAGCGAATGGG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000054829.2,