rs121918063

Orientation

plus

Stabilized

plus

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

Make rs121918063(G;G)

Make rs121918063(G;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45013928

Gene

UROD

is a	snp
is	mentioned by
dbSNP	rs121918063
dbSNP (classic)	rs121918063
ClinGen	rs121918063
ebi	rs121918063
HLI	rs121918063
Exac	rs121918063
Gnomad	rs121918063
Varsome	rs121918063
LitVar	rs121918063
Map	rs121918063
PheGenI	rs121918063
Biobank	rs121918063
1000 genomes	rs121918063
hgdp	rs121918063
ensembl	rs121918063
geneview	rs121918063
scholar	rs121918063
google	rs121918063
pharmgkb	rs121918063
gwascentral	rs121918063
openSNP	rs121918063
23andMe	rs121918063
SNPshot	rs121918063
SNPdbe	rs121918063
MSV3d	rs121918063
GWAS Ctlg	rs121918063

Max Magnitude

0

OMIM	613521
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121918063(G;G)
Alt	rs121918063(G;G)
Reference	Rs121918063(T;T)
Significance	Pathogenic
Disease	Familial porphyria cutanea tarda
Variation	info
Gene	UROD
CLNDBN	Familial porphyria cutanea tarda
Reversed	0
HGVS	NC_000001.10:g.45479600T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000091.3,