rs67156896

Orientation

plus

Stabilized

plus

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

Make rs67156896(A;A)

Make rs67156896(A;C)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38408949

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs67156896
dbSNP (classic)	rs67156896
ClinGen	rs67156896
ebi	rs67156896
HLI	rs67156896
Exac	rs67156896
Gnomad	rs67156896
Varsome	rs67156896
LitVar	rs67156896
Map	rs67156896
PheGenI	rs67156896
Biobank	rs67156896
1000 genomes	rs67156896
hgdp	rs67156896
ensembl	rs67156896
geneview	rs67156896
scholar	rs67156896
google	rs67156896
pharmgkb	rs67156896
gwascentral	rs67156896
openSNP	rs67156896
23andMe	rs67156896
SNPshot	rs67156896
SNPdbe	rs67156896
MSV3d	rs67156896
GWAS Ctlg	rs67156896

Max Magnitude

0

ClinVar
Risk	rs67156896(A;A) rs67156896(T;T)
Alt	rs67156896(A;A) rs67156896(T;T)
Reference	Rs67156896(C;C)
Significance	Pathogenic
Disease	not provided
Variation	info
Gene	OTC
CLNDBN	not provided
Reversed	0
HGVS	NC_000023.10:g.38268202C>A; NC_000023.10:g.38268202C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000083574.1, RCV000083575.1,

[PMID 12974280] Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.

[PMID 9452024] Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.