rs121918059

Orientation

plus

Stabilized

plus

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

Make rs121918059(C;G)

Make rs121918059(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45014835

Gene

UROD

is a	snp
is	mentioned by
dbSNP	rs121918059
dbSNP (classic)	rs121918059
ClinGen	rs121918059
ebi	rs121918059
HLI	rs121918059
Exac	rs121918059
Gnomad	rs121918059
Varsome	rs121918059
LitVar	rs121918059
Map	rs121918059
PheGenI	rs121918059
Biobank	rs121918059
1000 genomes	rs121918059
hgdp	rs121918059
ensembl	rs121918059
geneview	rs121918059
scholar	rs121918059
google	rs121918059
pharmgkb	rs121918059
gwascentral	rs121918059
openSNP	rs121918059
23andMe	rs121918059
SNPshot	rs121918059
SNPdbe	rs121918059
MSV3d	rs121918059
GWAS Ctlg	rs121918059

Max Magnitude

0

OMIM	613521
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121918059(G;G) rs121918059(T;T)
Alt	rs121918059(G;G) rs121918059(T;T)
Reference	Rs121918059(C;C)
Significance	Pathogenic
Disease	Hepatoerythropoietic porphyria not specified
Variation	info
Gene	UROD
CLNDBN	Hepatoerythropoietic porphyria not specified
Reversed	0
HGVS	NC_000001.10:g.45480507C>G; NC_000001.10:g.45480507C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000087.3, RCV000493784.1,