rs67418243

Orientation

plus

Stabilized

plus

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

Make rs67418243(C;G)

Make rs67418243(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38369853

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67418243
dbSNP (classic)	rs67418243
ClinGen	rs67418243
ebi	rs67418243
HLI	rs67418243
Exac	rs67418243
Gnomad	rs67418243
Varsome	rs67418243
LitVar	rs67418243
Map	rs67418243
PheGenI	rs67418243
Biobank	rs67418243
1000 genomes	rs67418243
hgdp	rs67418243
ensembl	rs67418243
geneview	rs67418243
scholar	rs67418243
google	rs67418243
pharmgkb	rs67418243
gwascentral	rs67418243
openSNP	rs67418243
23andMe	rs67418243
SNPshot	rs67418243
SNPdbe	rs67418243
MSV3d	rs67418243
GWAS Ctlg	rs67418243

Max Magnitude

0

ClinVar
Risk	rs67418243(G;G) rs67418243(T;T)
Alt	rs67418243(G;G) rs67418243(T;T)
Reference	Rs67418243(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38229106C>G; NC_000023.10:g.38229106C>T
CLNSRC	ClinVar
CLNACC	RCV000083382.1, RCV000083383.1,

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

[PMID 1671317] Improved molecular diagnostics for ornithine transcarbamylase deficiency.