rs72554348

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs72554348(C;C)

Make rs72554348(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38369882

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554348
dbSNP (classic)	rs72554348
ClinGen	rs72554348
ebi	rs72554348
HLI	rs72554348
Exac	rs72554348
Gnomad	rs72554348
Varsome	rs72554348
LitVar	rs72554348
Map	rs72554348
PheGenI	rs72554348
Biobank	rs72554348
1000 genomes	rs72554348
hgdp	rs72554348
ensembl	rs72554348
geneview	rs72554348
scholar	rs72554348
google	rs72554348
pharmgkb	rs72554348
gwascentral	rs72554348
openSNP	rs72554348
23andMe	rs72554348
SNPshot	rs72554348
SNPdbe	rs72554348
MSV3d	rs72554348
GWAS Ctlg	rs72554348

Max Magnitude

0

ClinVar
Risk	rs72554348(C;C)
Alt	rs72554348(C;C)
Reference	Rs72554348(G;G)
Significance	Pathogenic
Disease	not provided not specified Ornithine carbamoyltransferase deficiency
Variation	info
Gene	OTC
CLNDBN	not provided not specified Ornithine carbamoyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.38229135G>C
CLNSRC	ClinVar
CLNACC	RCV000083395.1, RCV000375335.2, RCV000378189.1,