rs66851495

Orientation

plus

Stabilized

plus

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

Make rs66851495(C;C)

Make rs66851495(C;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38408795

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs66851495
dbSNP (classic)	rs66851495
ClinGen	rs66851495
ebi	rs66851495
HLI	rs66851495
Exac	rs66851495
Gnomad	rs66851495
Varsome	rs66851495
LitVar	rs66851495
Map	rs66851495
PheGenI	rs66851495
Biobank	rs66851495
1000 genomes	rs66851495
hgdp	rs66851495
ensembl	rs66851495
geneview	rs66851495
scholar	rs66851495
google	rs66851495
pharmgkb	rs66851495
gwascentral	rs66851495
openSNP	rs66851495
23andMe	rs66851495
SNPshot	rs66851495
SNPdbe	rs66851495
MSV3d	rs66851495
GWAS Ctlg	rs66851495

Max Magnitude

0

ClinVar
Risk	rs66851495(A;A) rs66851495(C;C)
Alt	rs66851495(A;A) rs66851495(C;C)
Reference	Rs66851495(G;G)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38268048G>A; NC_000023.10:g.38268048G>C
CLNSRC	ClinVar
CLNACC	RCV000083547.1, RCV000083548.1,

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

[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.