rs121918058

Orientation

plus

Stabilized

plus

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

Make rs121918058(A;A)

Make rs121918058(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45013933

Gene

UROD

is a	snp
is	mentioned by
dbSNP	rs121918058
dbSNP (classic)	rs121918058
ClinGen	rs121918058
ebi	rs121918058
HLI	rs121918058
Exac	rs121918058
Gnomad	rs121918058
Varsome	rs121918058
LitVar	rs121918058
Map	rs121918058
PheGenI	rs121918058
Biobank	rs121918058
1000 genomes	rs121918058
hgdp	rs121918058
ensembl	rs121918058
geneview	rs121918058
scholar	rs121918058
google	rs121918058
pharmgkb	rs121918058
gwascentral	rs121918058
openSNP	rs121918058
23andMe	rs121918058
SNPshot	rs121918058
SNPdbe	rs121918058
MSV3d	rs121918058
GWAS Ctlg	rs121918058

Max Magnitude

0

OMIM	613521
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121918058(A;A)
Alt	rs121918058(A;A)
Reference	Rs121918058(G;G)
Significance	Pathogenic
Disease	Hepatoerythropoietic porphyria
Variation	info
Gene	UROD
CLNDBN	Hepatoerythropoietic porphyria
Reversed	0
HGVS	NC_000001.10:g.45479605G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000086.3,