rs72556271

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401370

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72556271
dbSNP (classic)	rs72556271
ClinGen	rs72556271
ebi	rs72556271
HLI	rs72556271
Exac	rs72556271
Gnomad	rs72556271
Varsome	rs72556271
LitVar	rs72556271
Map	rs72556271
PheGenI	rs72556271
Biobank	rs72556271
1000 genomes	rs72556271
hgdp	rs72556271
ensembl	rs72556271
geneview	rs72556271
scholar	rs72556271
google	rs72556271
pharmgkb	rs72556271
gwascentral	rs72556271
openSNP	rs72556271
23andMe	rs72556271
SNPshot	rs72556271
SNPdbe	rs72556271
MSV3d	rs72556271
GWAS Ctlg	rs72556271

Max Magnitude

8.2

ClinVar
Risk	Rs72556271(G;G)
Alt	Rs72556271(G;G)
Reference	Rs72556271(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38260623A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083455.2,