rs67752076

Orientation

plus

Stabilized

plus

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

Make rs67752076(A;G)

Make rs67752076(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38352697

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67752076
dbSNP (classic)	rs67752076
ClinGen	rs67752076
ebi	rs67752076
HLI	rs67752076
Exac	rs67752076
Gnomad	rs67752076
Varsome	rs67752076
LitVar	rs67752076
Map	rs67752076
PheGenI	rs67752076
Biobank	rs67752076
1000 genomes	rs67752076
hgdp	rs67752076
ensembl	rs67752076
geneview	rs67752076
scholar	rs67752076
google	rs67752076
pharmgkb	rs67752076
gwascentral	rs67752076
openSNP	rs67752076
23andMe	rs67752076
SNPshot	rs67752076
SNPdbe	rs67752076
MSV3d	rs67752076
GWAS Ctlg	rs67752076

Max Magnitude

0

ClinVar
Risk	rs67752076(G;G) rs67752076(T;T)
Alt	rs67752076(G;G) rs67752076(T;T)
Reference	Rs67752076(A;A)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38211950A>G; NC_000023.10:g.38211950A>T
CLNSRC	ClinVar
CLNACC	RCV000083359.1, RCV000083360.1,

[PMID 9143919] Ornithine transcarbamylase deficiency: ten new mutations and high proportion of de novo mutations in heterozygous females.

[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.