rs121908018

Orientation

minus

Stabilized

minus

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

Make rs121908018(A;T)

Make rs121908018(T;T)

Reference

GRCh38 38.1/141

Chromosome

10

Position

125815035

Gene

UROS

is a	snp
is	mentioned by
dbSNP	rs121908018
dbSNP (classic)	rs121908018
ClinGen	rs121908018
ebi	rs121908018
HLI	rs121908018
Exac	rs121908018
Gnomad	rs121908018
Varsome	rs121908018
LitVar	rs121908018
Map	rs121908018
PheGenI	rs121908018
Biobank	rs121908018
1000 genomes	rs121908018
hgdp	rs121908018
ensembl	rs121908018
geneview	rs121908018
scholar	rs121908018
google	rs121908018
pharmgkb	rs121908018
gwascentral	rs121908018
openSNP	rs121908018
23andMe	rs121908018
SNPshot	rs121908018
SNPdbe	rs121908018
MSV3d	rs121908018
GWAS Ctlg	rs121908018

Max Magnitude

0

OMIM	606938
Desc
Variant	0011
Related	also

ClinVar
Risk	rs121908018(T;T)
Alt	rs121908018(T;T)
Reference	Rs121908018(A;A)
Significance	Pathogenic
Disease	Congenital erythropoietic porphyria
Variation	info
Gene	UROS
CLNDBN	Congenital erythropoietic porphyria
Reversed	1
HGVS	NC_000010.10:g.127503604T>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003958.3,