rs121908017

Orientation

minus

Stabilized

minus

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

Make rs121908017(A;A)

Make rs121908017(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125794978

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908017
dbSNP (classic)	rs121908017
ClinGen	rs121908017
ebi	rs121908017
HLI	rs121908017
Exac	rs121908017
Gnomad	rs121908017
Varsome	rs121908017
LitVar	rs121908017
Map	rs121908017
PheGenI	rs121908017
Biobank	rs121908017
1000 genomes	rs121908017
hgdp	rs121908017
ensembl	rs121908017
geneview	rs121908017
scholar	rs121908017
google	rs121908017
pharmgkb	rs121908017
gwascentral	rs121908017
openSNP	rs121908017
23andMe	rs121908017
SNPshot	rs121908017
SNPdbe	rs121908017
MSV3d	rs121908017
GWAS Ctlg	rs121908017

Max Magnitude

0

OMIM	606938
Desc
Variant	0010
Related	also

OMIM	606938
Desc
Variant	0012
Related	also

ClinVar
Risk	rs121908017(A;A) rs121908017(T;T)
Alt	rs121908017(A;A) rs121908017(T;T)
Reference	Rs121908017(G;G)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127483547C>A; NC_000010.10:g.127483547C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003959.4, RCV000003957.3,