rs121908014

Orientation

minus

Stabilized

minus

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

Make rs121908014(C;T)

Make rs121908014(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125788983

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908014
dbSNP (classic)	rs121908014
ClinGen	rs121908014
ebi	rs121908014
HLI	rs121908014
Exac	rs121908014
Gnomad	rs121908014
Varsome	rs121908014
LitVar	rs121908014
Map	rs121908014
PheGenI	rs121908014
Biobank	rs121908014
1000 genomes	rs121908014
hgdp	rs121908014
ensembl	rs121908014
geneview	rs121908014
scholar	rs121908014
google	rs121908014
pharmgkb	rs121908014
gwascentral	rs121908014
openSNP	rs121908014
23andMe	rs121908014
SNPshot	rs121908014
SNPdbe	rs121908014
MSV3d	rs121908014
GWAS Ctlg	rs121908014

Max Magnitude

0

OMIM	606938
Desc
Variant	0005
Related	also

ClinVar
Risk	rs121908014(T;T)
Alt	rs121908014(T;T)
Reference	Rs121908014(C;C)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127477552G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003952.3,