rs121908020

Orientation

minus

Stabilized

minus

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

Make rs121908020(A;A)

Make rs121908020(A;G)

Reference

GRCh38 38.1/142

Chromosome

10

Position

125788993

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908020
dbSNP (classic)	rs121908020
ClinGen	rs121908020
ebi	rs121908020
HLI	rs121908020
Exac	rs121908020
Gnomad	rs121908020
Varsome	rs121908020
LitVar	rs121908020
Map	rs121908020
PheGenI	rs121908020
Biobank	rs121908020
1000 genomes	rs121908020
hgdp	rs121908020
ensembl	rs121908020
geneview	rs121908020
scholar	rs121908020
google	rs121908020
pharmgkb	rs121908020
gwascentral	rs121908020
openSNP	rs121908020
23andMe	rs121908020
SNPshot	rs121908020
SNPdbe	rs121908020
MSV3d	rs121908020
GWAS Ctlg	rs121908020

Max Magnitude

0

OMIM	606938
Desc
Variant	0017
Related	also

ClinVar
Risk	rs121908020(A;A)
Alt	rs121908020(A;A)
Reference	Rs121908020(G;G)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127477562C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003964.4,