rs28941775

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	3	Porphyria carrier
(G;G)	3.5	Porphyria

Reference

GRCh38 38.1/141

Chromosome

10

Position

125815094

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs28941775
dbSNP (classic)	rs28941775
ClinGen	rs28941775
ebi	rs28941775
HLI	rs28941775
Exac	rs28941775
Gnomad	rs28941775
Varsome	rs28941775
LitVar	rs28941775
Map	rs28941775
PheGenI	rs28941775
Biobank	rs28941775
1000 genomes	rs28941775
hgdp	rs28941775
ensembl	rs28941775
geneview	rs28941775
scholar	rs28941775
google	rs28941775
pharmgkb	rs28941775
gwascentral	rs28941775
openSNP	rs28941775
23andMe	rs28941775
SNPshot	rs28941775
SNPdbe	rs28941775
MSV3d	rs28941775
GWAS Ctlg	rs28941775

Max Magnitude

3.5

OMIM	606938
Desc	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Variant	0004
Related	also

ClinVar
Risk	Rs28941775(G;G)
Alt	Rs28941775(G;G)
Reference	Rs28941775(A;A)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127503663T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003951.3,