rs72554327

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

X

Position

38369795

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554327
dbSNP (classic)	rs72554327
ClinGen	rs72554327
ebi	rs72554327
HLI	rs72554327
Exac	rs72554327
Gnomad	rs72554327
Varsome	rs72554327
LitVar	rs72554327
Map	rs72554327
PheGenI	rs72554327
Biobank	rs72554327
1000 genomes	rs72554327
hgdp	rs72554327
ensembl	rs72554327
geneview	rs72554327
scholar	rs72554327
google	rs72554327
pharmgkb	rs72554327
gwascentral	rs72554327
openSNP	rs72554327
23andMe	rs72554327
SNPshot	rs72554327
SNPdbe	rs72554327
MSV3d	rs72554327
GWAS Ctlg	rs72554327

Max Magnitude

8.2

ClinVar
Risk	Rs72554327(A;A)
Alt	Rs72554327(A;A)
Reference	Rs72554327(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38229048G>A
CLNSRC	ClinVar
CLNACC	RCV000083365.1,