rs121918061

Orientation

plus

Stabilized

plus

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

Make rs121918061(A;G)

Make rs121918061(G;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45014996

Gene

UROD

is a	snp
is	mentioned by
dbSNP	rs121918061
dbSNP (classic)	rs121918061
ClinGen	rs121918061
ebi	rs121918061
HLI	rs121918061
Exac	rs121918061
Gnomad	rs121918061
Varsome	rs121918061
LitVar	rs121918061
Map	rs121918061
PheGenI	rs121918061
Biobank	rs121918061
1000 genomes	rs121918061
hgdp	rs121918061
ensembl	rs121918061
geneview	rs121918061
scholar	rs121918061
google	rs121918061
pharmgkb	rs121918061
gwascentral	rs121918061
openSNP	rs121918061
23andMe	rs121918061
SNPshot	rs121918061
SNPdbe	rs121918061
MSV3d	rs121918061
GWAS Ctlg	rs121918061

Max Magnitude

0

OMIM	613521
Desc
Variant	0007
Related	also

ClinVar
Risk	rs121918061(G;G)
Alt	rs121918061(G;G)
Reference	Rs121918061(A;A)
Significance	Pathogenic
Disease	Hepatoerythropoietic porphyria
Variation	info
Gene	UROD
CLNDBN	Hepatoerythropoietic porphyria
Reversed	0
HGVS	NC_000001.10:g.45480668A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000089.3,