rs121918065

Orientation

plus

Stabilized

plus

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

Make rs121918065(A;A)

Make rs121918065(A;C)

Reference

GRCh38 38.1/141

Chromosome

1

Position

45014976

Gene

UROD

is a	snp
is	mentioned by
dbSNP	rs121918065
dbSNP (classic)	rs121918065
ClinGen	rs121918065
ebi	rs121918065
HLI	rs121918065
Exac	rs121918065
Gnomad	rs121918065
Varsome	rs121918065
LitVar	rs121918065
Map	rs121918065
PheGenI	rs121918065
Biobank	rs121918065
1000 genomes	rs121918065
hgdp	rs121918065
ensembl	rs121918065
geneview	rs121918065
scholar	rs121918065
google	rs121918065
pharmgkb	rs121918065
gwascentral	rs121918065
openSNP	rs121918065
23andMe	rs121918065
SNPshot	rs121918065
SNPdbe	rs121918065
MSV3d	rs121918065
GWAS Ctlg	rs121918065

Max Magnitude

0

OMIM	613521
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121918065(A;A)
Alt	rs121918065(A;A)
Reference	Rs121918065(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.45480648C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000000093.3,