rs72554356

Orientation

plus

Stabilized

plus

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

Make rs72554356(C;T)

Make rs72554356(T;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38381417

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72554356
dbSNP (classic)	rs72554356
ClinGen	rs72554356
ebi	rs72554356
HLI	rs72554356
Exac	rs72554356
Gnomad	rs72554356
Varsome	rs72554356
LitVar	rs72554356
Map	rs72554356
PheGenI	rs72554356
Biobank	rs72554356
1000 genomes	rs72554356
hgdp	rs72554356
ensembl	rs72554356
geneview	rs72554356
scholar	rs72554356
google	rs72554356
pharmgkb	rs72554356
gwascentral	rs72554356
openSNP	rs72554356
23andMe	rs72554356
SNPshot	rs72554356
SNPdbe	rs72554356
MSV3d	rs72554356
GWAS Ctlg	rs72554356

Max Magnitude

0

ClinVar
Risk	rs72554356(T;T)
Alt	rs72554356(T;T)
Reference	Rs72554356(C;C)
Significance	Pathogenic
Disease	not provided Hyperammonaemia
Variation	info
Gene	OTC
CLNDBN	not provided Hyperammonaemia
Reversed	0
HGVS	NC_000023.10:g.38240670C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083408.1, RCV000148721.1,