rs72556277

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	Carrier of an ornithine carbamoyltransferase mutation
(G;G)	8.2	Ornithine Transcarbamylase Deficiency

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401393

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72556277
dbSNP (classic)	rs72556277
ClinGen	rs72556277
ebi	rs72556277
HLI	rs72556277
Exac	rs72556277
Gnomad	rs72556277
Varsome	rs72556277
LitVar	rs72556277
Map	rs72556277
PheGenI	rs72556277
Biobank	rs72556277
1000 genomes	rs72556277
hgdp	rs72556277
ensembl	rs72556277
geneview	rs72556277
scholar	rs72556277
google	rs72556277
pharmgkb	rs72556277
gwascentral	rs72556277
openSNP	rs72556277
23andMe	rs72556277
SNPshot	rs72556277
SNPdbe	rs72556277
MSV3d	rs72556277
GWAS Ctlg	rs72556277

Max Magnitude

8.2

ClinVar
Risk	Rs72556277(G;G)
Alt	Rs72556277(G;G)
Reference	Rs72556277(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38260646C>G
CLNSRC	ClinVar
CLNACC	RCV000083467.1,