rs121918057

Orientation

plus

Stabilized

plus

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

Make rs121918057(G;T)

Make rs121918057(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45014803

Gene

UROD

is a	snp
is	mentioned by
dbSNP	rs121918057
dbSNP (classic)	rs121918057
ClinGen	rs121918057
ebi	rs121918057
HLI	rs121918057
Exac	rs121918057
Gnomad	rs121918057
Varsome	rs121918057
LitVar	rs121918057
Map	rs121918057
PheGenI	rs121918057
Biobank	rs121918057
1000 genomes	rs121918057
hgdp	rs121918057
ensembl	rs121918057
geneview	rs121918057
scholar	rs121918057
google	rs121918057
pharmgkb	rs121918057
gwascentral	rs121918057
openSNP	rs121918057
23andMe	rs121918057
SNPshot	rs121918057
SNPdbe	rs121918057
MSV3d	rs121918057
GWAS Ctlg	rs121918057

Max Magnitude

0

OMIM	613521
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121918057(A;A) rs121918057(T;T)
Alt	rs121918057(A;A) rs121918057(T;T)
Reference	Rs121918057(G;G)
Significance	Pathogenic
Disease	Hepatoerythropoietic porphyria Porphyria cutanea tarda Familial porphyria cutanea tarda
Variation	info
Gene	UROD
CLNDBN	Hepatoerythropoietic porphyria Porphyria cutanea tarda Familial porphyria cutanea tarda
Reversed	0
HGVS	NC_000001.10:g.45480475G>A; NC_000001.10:g.45480475G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000083.2, RCV000024023.2, RCV000240661.1, RCV000000082.3,