rs397515527

Orientation

minus

Stabilized

minus

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

Make rs397515527(C;C)

Make rs397515527(C;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125816185

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs397515527
dbSNP (classic)	rs397515527
ClinGen	rs397515527
ebi	rs397515527
HLI	rs397515527
Exac	rs397515527
Gnomad	rs397515527
Varsome	rs397515527
LitVar	rs397515527
Map	rs397515527
PheGenI	rs397515527
Biobank	rs397515527
1000 genomes	rs397515527
hgdp	rs397515527
ensembl	rs397515527
geneview	rs397515527
scholar	rs397515527
google	rs397515527
pharmgkb	rs397515527
gwascentral	rs397515527
openSNP	rs397515527
23andMe	rs397515527
SNPshot	rs397515527
SNPdbe	rs397515527
MSV3d	rs397515527
GWAS Ctlg	rs397515527

Max Magnitude

0

ClinVar
Risk	rs397515527(C;C)
Alt	rs397515527(C;C)
Reference	Rs397515527(T;T)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127504754A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000055808.1,