rs121908015

Orientation

minus

Stabilized

minus

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

Make rs121908015(C;T)

Make rs121908015(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125816490

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908015
dbSNP (classic)	rs121908015
ClinGen	rs121908015
ebi	rs121908015
HLI	rs121908015
Exac	rs121908015
Gnomad	rs121908015
Varsome	rs121908015
LitVar	rs121908015
Map	rs121908015
PheGenI	rs121908015
Biobank	rs121908015
1000 genomes	rs121908015
hgdp	rs121908015
ensembl	rs121908015
geneview	rs121908015
scholar	rs121908015
google	rs121908015
pharmgkb	rs121908015
gwascentral	rs121908015
openSNP	rs121908015
23andMe	rs121908015
SNPshot	rs121908015
SNPdbe	rs121908015
MSV3d	rs121908015
GWAS Ctlg	rs121908015

Max Magnitude

0

OMIM	606938
Desc
Variant	0006
Related	also

ClinVar
Risk	rs121908015(T;T)
Alt	rs121908015(T;T)
Reference	Rs121908015(C;C)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127505059G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003953.3,