rs28941774

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Porphyria carrier
(T;T)	3.5	Porphyria

Reference

GRCh38 38.1/141

Chromosome

10

Position

125815081

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs28941774
dbSNP (classic)	rs28941774
ClinGen	rs28941774
ebi	rs28941774
HLI	rs28941774
Exac	rs28941774
Gnomad	rs28941774
Varsome	rs28941774
LitVar	rs28941774
Map	rs28941774
PheGenI	rs28941774
Biobank	rs28941774
1000 genomes	rs28941774
hgdp	rs28941774
ensembl	rs28941774
geneview	rs28941774
scholar	rs28941774
google	rs28941774
pharmgkb	rs28941774
gwascentral	rs28941774
openSNP	rs28941774
23andMe	rs28941774
SNPshot	rs28941774
SNPdbe	rs28941774
MSV3d	rs28941774
GWAS Ctlg	rs28941774

Max Magnitude

3.5

OMIM	606938
Desc	PORPHYRIA, CONGENITAL ERYTHROPOIETIC
Variant	0003
Related	also

ClinVar
Risk	Rs28941774(T;T)
Alt	Rs28941774(T;T)
Reference	Rs28941774(C;C)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127503650G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003950.4,