rs397515349

Orientation

minus

Stabilized

minus

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

Make rs397515349(A;A)

Make rs397515349(A;G)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125816708

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs397515349
dbSNP (classic)	rs397515349
ClinGen	rs397515349
ebi	rs397515349
HLI	rs397515349
Exac	rs397515349
Gnomad	rs397515349
Varsome	rs397515349
LitVar	rs397515349
Map	rs397515349
PheGenI	rs397515349
Biobank	rs397515349
1000 genomes	rs397515349
hgdp	rs397515349
ensembl	rs397515349
geneview	rs397515349
scholar	rs397515349
google	rs397515349
pharmgkb	rs397515349
gwascentral	rs397515349
openSNP	rs397515349
23andMe	rs397515349
SNPshot	rs397515349
SNPdbe	rs397515349
MSV3d	rs397515349
GWAS Ctlg	rs397515349

Max Magnitude

0

ClinVar
Risk	rs397515349(A;A)
Alt	rs397515349(A;A)
Reference	Rs397515349(G;G)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127505277C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003961.6,