rs121908021

Orientation

minus

Stabilized

minus

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

Make rs121908021(A;A)

Make rs121908021(A;C)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125788923

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908021
dbSNP (classic)	rs121908021
ClinGen	rs121908021
ebi	rs121908021
HLI	rs121908021
Exac	rs121908021
Gnomad	rs121908021
Varsome	rs121908021
LitVar	rs121908021
Map	rs121908021
PheGenI	rs121908021
Biobank	rs121908021
1000 genomes	rs121908021
hgdp	rs121908021
ensembl	rs121908021
geneview	rs121908021
scholar	rs121908021
google	rs121908021
pharmgkb	rs121908021
gwascentral	rs121908021
openSNP	rs121908021
23andMe	rs121908021
SNPshot	rs121908021
SNPdbe	rs121908021
MSV3d	rs121908021
GWAS Ctlg	rs121908021

Max Magnitude

0

OMIM	606938
Desc
Variant	0020
Related	also

ClinVar
Risk	rs121908021(A;A)
Alt	rs121908021(A;A)
Reference	Rs121908021(C;C)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127477492G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003967.2,