rs72558415

Orientation

plus

Stabilized

plus

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

Make rs72558415(A;A)

Make rs72558415(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38403698

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs72558415
dbSNP (classic)	rs72558415
ClinGen	rs72558415
ebi	rs72558415
HLI	rs72558415
Exac	rs72558415
Gnomad	rs72558415
Varsome	rs72558415
LitVar	rs72558415
Map	rs72558415
PheGenI	rs72558415
Biobank	rs72558415
1000 genomes	rs72558415
hgdp	rs72558415
ensembl	rs72558415
geneview	rs72558415
scholar	rs72558415
google	rs72558415
pharmgkb	rs72558415
gwascentral	rs72558415
openSNP	rs72558415
23andMe	rs72558415
SNPshot	rs72558415
SNPdbe	rs72558415
MSV3d	rs72558415
GWAS Ctlg	rs72558415

Max Magnitude

0

ClinVar
Risk	rs72558415(A;A) rs72558415(T;T)
Alt	rs72558415(A;A) rs72558415(T;T)
Reference	Rs72558415(C;C)
Significance	Pathogenic
Disease	not provided Ornithine carbamoyltransferase deficiency
Variation	info
Gene	OTC
CLNDBN	not provided Ornithine carbamoyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.38262951C>A; NC_000023.10:g.38262951C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083516.1, RCV000320040.1,