rs121918064

Orientation

plus

Stabilized

plus

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

Make rs121918064(C;T)

Make rs121918064(T;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45014017

Gene

UROD

is a	snp
is	mentioned by
dbSNP	rs121918064
dbSNP (classic)	rs121918064
ClinGen	rs121918064
ebi	rs121918064
HLI	rs121918064
Exac	rs121918064
Gnomad	rs121918064
Varsome	rs121918064
LitVar	rs121918064
Map	rs121918064
PheGenI	rs121918064
Biobank	rs121918064
1000 genomes	rs121918064
hgdp	rs121918064
ensembl	rs121918064
geneview	rs121918064
scholar	rs121918064
google	rs121918064
pharmgkb	rs121918064
gwascentral	rs121918064
openSNP	rs121918064
23andMe	rs121918064
SNPshot	rs121918064
SNPdbe	rs121918064
MSV3d	rs121918064
GWAS Ctlg	rs121918064

Max Magnitude

0

OMIM	613521
Desc
Variant	0010
Related	also

ClinVar
Risk	rs121918064(T;T)
Alt	rs121918064(T;T)
Reference	Rs121918064(C;C)
Significance	Pathogenic
Disease	Familial porphyria cutanea tarda
Variation	info
Gene	UROD
CLNDBN	Familial porphyria cutanea tarda
Reversed	0
HGVS	NC_000001.10:g.45479689C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000092.3,