rs121908013

Orientation

minus

Stabilized

minus

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

Make rs121908013(C;T)

Make rs121908013(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125815120

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908013
dbSNP (classic)	rs121908013
ClinGen	rs121908013
ebi	rs121908013
HLI	rs121908013
Exac	rs121908013
Gnomad	rs121908013
Varsome	rs121908013
LitVar	rs121908013
Map	rs121908013
PheGenI	rs121908013
Biobank	rs121908013
1000 genomes	rs121908013
hgdp	rs121908013
ensembl	rs121908013
geneview	rs121908013
scholar	rs121908013
google	rs121908013
pharmgkb	rs121908013
gwascentral	rs121908013
openSNP	rs121908013
23andMe	rs121908013
SNPshot	rs121908013
SNPdbe	rs121908013
MSV3d	rs121908013
GWAS Ctlg	rs121908013

Max Magnitude

0

OMIM	606938
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121908013(T;T)
Alt	rs121908013(T;T)
Reference	Rs121908013(C;C)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127503689G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003949.3,