rs72558417

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38403703

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72558417
dbSNP (classic)	rs72558417
ClinGen	rs72558417
ebi	rs72558417
HLI	rs72558417
Exac	rs72558417
Gnomad	rs72558417
Varsome	rs72558417
LitVar	rs72558417
Map	rs72558417
PheGenI	rs72558417
Biobank	rs72558417
1000 genomes	rs72558417
hgdp	rs72558417
ensembl	rs72558417
geneview	rs72558417
scholar	rs72558417
google	rs72558417
pharmgkb	rs72558417
gwascentral	rs72558417
openSNP	rs72558417
23andMe	rs72558417
SNPshot	rs72558417
SNPdbe	rs72558417
MSV3d	rs72558417
GWAS Ctlg	rs72558417

Max Magnitude

8.2

ClinVar
Risk	rs72558417(G;G) Rs72558417(T;T)
Alt	rs72558417(G;G) Rs72558417(T;T)
Reference	Rs72558417(C;C)
Significance	Pathogenic
Disease	not specified not provided
Variation	info
Gene	OTC
CLNDBN	not specified not provided
Reversed	0
HGVS	NC_000023.10:g.38262956C>G; NC_000023.10:g.38262956C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000489120.1, RCV000083518.1,