rs397515528

Orientation

minus

Stabilized

minus

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

Make rs397515528(C;T)

Make rs397515528(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125812222

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs397515528
dbSNP (classic)	rs397515528
ClinGen	rs397515528
ebi	rs397515528
HLI	rs397515528
Exac	rs397515528
Gnomad	rs397515528
Varsome	rs397515528
LitVar	rs397515528
Map	rs397515528
PheGenI	rs397515528
Biobank	rs397515528
1000 genomes	rs397515528
hgdp	rs397515528
ensembl	rs397515528
geneview	rs397515528
scholar	rs397515528
google	rs397515528
pharmgkb	rs397515528
gwascentral	rs397515528
openSNP	rs397515528
23andMe	rs397515528
SNPshot	rs397515528
SNPdbe	rs397515528
MSV3d	rs397515528
GWAS Ctlg	rs397515528

Max Magnitude

0

ClinVar
Risk	rs397515528(T;T)
Alt	rs397515528(T;T)
Reference	Rs397515528(C;C)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127500791G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055809.1,