rs72558470

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38411937

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72558470
dbSNP (classic)	rs72558470
ClinGen	rs72558470
ebi	rs72558470
HLI	rs72558470
Exac	rs72558470
Gnomad	rs72558470
Varsome	rs72558470
LitVar	rs72558470
Map	rs72558470
PheGenI	rs72558470
Biobank	rs72558470
1000 genomes	rs72558470
hgdp	rs72558470
ensembl	rs72558470
geneview	rs72558470
scholar	rs72558470
google	rs72558470
pharmgkb	rs72558470
gwascentral	rs72558470
openSNP	rs72558470
23andMe	rs72558470
SNPshot	rs72558470
SNPdbe	rs72558470
MSV3d	rs72558470
GWAS Ctlg	rs72558470

Max Magnitude

8.2

ClinVar
Risk	Rs72558470(T;T)
Alt	Rs72558470(T;T)
Reference	Rs72558470(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38271190G>T
CLNSRC	ClinVar
CLNACC	RCV000083614.1,