rs72558411

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

38403690

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72558411
dbSNP (classic)	rs72558411
ClinGen	rs72558411
ebi	rs72558411
HLI	rs72558411
Exac	rs72558411
Gnomad	rs72558411
Varsome	rs72558411
LitVar	rs72558411
Map	rs72558411
PheGenI	rs72558411
Biobank	rs72558411
1000 genomes	rs72558411
hgdp	rs72558411
ensembl	rs72558411
geneview	rs72558411
scholar	rs72558411
google	rs72558411
pharmgkb	rs72558411
gwascentral	rs72558411
openSNP	rs72558411
23andMe	rs72558411
SNPshot	rs72558411
SNPdbe	rs72558411
MSV3d	rs72558411
GWAS Ctlg	rs72558411

Max Magnitude

8.2

ClinVar
Risk	Rs72558411(G;G)
Alt	Rs72558411(G;G)
Reference	Rs72558411(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38262943A>G
CLNSRC	ClinVar
CLNACC	RCV000083512.1,