rs121908016

Orientation

minus

Stabilized

minus

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

Make rs121908016(G;T)

Make rs121908016(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125815034

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908016
dbSNP (classic)	rs121908016
ClinGen	rs121908016
ebi	rs121908016
HLI	rs121908016
Exac	rs121908016
Gnomad	rs121908016
Varsome	rs121908016
LitVar	rs121908016
Map	rs121908016
PheGenI	rs121908016
Biobank	rs121908016
1000 genomes	rs121908016
hgdp	rs121908016
ensembl	rs121908016
geneview	rs121908016
scholar	rs121908016
google	rs121908016
pharmgkb	rs121908016
gwascentral	rs121908016
openSNP	rs121908016
23andMe	rs121908016
SNPshot	rs121908016
SNPdbe	rs121908016
MSV3d	rs121908016
GWAS Ctlg	rs121908016

GMAF

0.0004591

Max Magnitude

0

OMIM	606938
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121908016(T;T)
Alt	rs121908016(T;T)
Reference	Rs121908016(G;G)
Significance	Other
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127503603C>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003956.5,