rs72558473

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

38411952

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72558473
dbSNP (classic)	rs72558473
ClinGen	rs72558473
ebi	rs72558473
HLI	rs72558473
Exac	rs72558473
Gnomad	rs72558473
Varsome	rs72558473
LitVar	rs72558473
Map	rs72558473
PheGenI	rs72558473
Biobank	rs72558473
1000 genomes	rs72558473
hgdp	rs72558473
ensembl	rs72558473
geneview	rs72558473
scholar	rs72558473
google	rs72558473
pharmgkb	rs72558473
gwascentral	rs72558473
openSNP	rs72558473
23andMe	rs72558473
SNPshot	rs72558473
SNPdbe	rs72558473
MSV3d	rs72558473
GWAS Ctlg	rs72558473

Max Magnitude

8.2

ClinVar
Risk	rs72558473(A;A) Rs72558473(T;T)
Alt	rs72558473(A;A) Rs72558473(T;T)
Reference	Rs72558473(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38271205C>T
CLNSRC	ClinVar
CLNACC	RCV000083620.3,