rs67016166

Orientation

plus

Stabilized

plus

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

Make rs67016166(C;C)

Make rs67016166(C;T)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38401331

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67016166
dbSNP (classic)	rs67016166
ClinGen	rs67016166
ebi	rs67016166
HLI	rs67016166
Exac	rs67016166
Gnomad	rs67016166
Varsome	rs67016166
LitVar	rs67016166
Map	rs67016166
PheGenI	rs67016166
Biobank	rs67016166
1000 genomes	rs67016166
hgdp	rs67016166
ensembl	rs67016166
geneview	rs67016166
scholar	rs67016166
google	rs67016166
pharmgkb	rs67016166
gwascentral	rs67016166
openSNP	rs67016166
23andMe	rs67016166
SNPshot	rs67016166
SNPdbe	rs67016166
MSV3d	rs67016166
GWAS Ctlg	rs67016166

Max Magnitude

0

ClinVar
Risk	rs67016166(C;C) rs67016166(G;G)
Alt	rs67016166(C;C) rs67016166(G;G)
Reference	Rs67016166(T;T)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38260584T>C; NC_000023.10:g.38260584T>G
CLNSRC	ClinVar
CLNACC	RCV000083439.1, RCV000083440.1,

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

[PMID 10946359] Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype.