rs121908066

Orientation

plus

Stabilized

plus

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

Make rs121908066(C;C)

Make rs121908066(C;G)

Reference

GRCh38 38.1/141

Chromosome

22

Position

24500211

Gene

UPB1

is a	snp
is	mentioned by
dbSNP	rs121908066
dbSNP (classic)	rs121908066
ClinGen	rs121908066
ebi	rs121908066
HLI	rs121908066
Exac	rs121908066
Gnomad	rs121908066
Varsome	rs121908066
LitVar	rs121908066
Map	rs121908066
PheGenI	rs121908066
Biobank	rs121908066
1000 genomes	rs121908066
hgdp	rs121908066
ensembl	rs121908066
geneview	rs121908066
scholar	rs121908066
google	rs121908066
pharmgkb	rs121908066
gwascentral	rs121908066
openSNP	rs121908066
23andMe	rs121908066
SNPshot	rs121908066
SNPdbe	rs121908066
MSV3d	rs121908066
GWAS Ctlg	rs121908066

GMAF

0.0004591

Max Magnitude

0

OMIM	606673
Desc
Variant	0004
Related	also

ClinVar
Risk	rs121908066(A;A) rs121908066(C;C)
Alt	rs121908066(A;A) rs121908066(C;C)
Reference	Rs121908066(G;G)
Significance	Pathogenic
Disease	Deficiency of beta-ureidopropionase
Variation	info
Gene	UPB1
CLNDBN	Deficiency of beta-ureidopropionase
Reversed	0
HGVS	NC_000022.10:g.24896179G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000004366.3,