rs121917891

Orientation

plus

Stabilized

plus

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

Make rs121917891(C;C)

Make rs121917891(C;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

124743926

Gene

UMPS

is a	snp
is	mentioned by
dbSNP	rs121917891
dbSNP (classic)	rs121917891
ClinGen	rs121917891
ebi	rs121917891
HLI	rs121917891
Exac	rs121917891
Gnomad	rs121917891
Varsome	rs121917891
LitVar	rs121917891
Map	rs121917891
PheGenI	rs121917891
Biobank	rs121917891
1000 genomes	rs121917891
hgdp	rs121917891
ensembl	rs121917891
geneview	rs121917891
scholar	rs121917891
google	rs121917891
pharmgkb	rs121917891
gwascentral	rs121917891
openSNP	rs121917891
23andMe	rs121917891
SNPshot	rs121917891
SNPdbe	rs121917891
MSV3d	rs121917891
GWAS Ctlg	rs121917891

Max Magnitude

0

OMIM	258900
Desc
Variant	0001
Related	also

ClinVar
Risk	rs121917891(C;C)
Alt	rs121917891(C;C)
Reference	Rs121917891(G;G)
Significance	Pathogenic
Disease	Orotic aciduria
Variation	info
Gene	UMPS
CLNDBN	Orotic aciduria
Reversed	0
HGVS	NC_000003.11:g.124462773G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012681.2,