rs1800321

Orientation

plus

Stabilized

plus

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

Make rs1800321(A;G)

Make rs1800321(G;G)

Reference

GRCh38 38.1/141

Chromosome

X

Position

38367350

Gene

OTC

is a	snp
is	mentioned by
dbSNP	rs1800321
dbSNP (classic)	rs1800321
ClinGen	rs1800321
ebi	rs1800321
HLI	rs1800321
Exac	rs1800321
Gnomad	rs1800321
Varsome	rs1800321
LitVar	rs1800321
Map	rs1800321
PheGenI	rs1800321
Biobank	rs1800321
1000 genomes	rs1800321
hgdp	rs1800321
ensembl	rs1800321
geneview	rs1800321
scholar	rs1800321
google	rs1800321
pharmgkb	rs1800321
gwascentral	rs1800321
openSNP	rs1800321
23andMe	rs1800321
SNPshot	rs1800321
SNPdbe	rs1800321
MSV3d	rs1800321
GWAS Ctlg	rs1800321

GMAF

0.1971

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

OMIM	300461
Desc	ORNITHINE TRANSCARBAMYLASE POLYMORPHISM
Variant	0009
Related	also

[PMID 19574962] Association of Ornithine Transcarbamylase Gene Polymorphisms With Hypertension and Coronary Artery Vasomotion

ClinVar
Risk	rs1800321(G;G)
Alt	rs1800321(G;G)
Reference	Rs1800321(A;A)
Significance	Other
Disease	ORNITHINE TRANSCARBAMYLASE POLYMORPHISM not specified Ornithine carbamoyltransferase deficiency
Variation	info
Gene	OTC
CLNDBN	ORNITHINE TRANSCARBAMYLASE POLYMORPHISM not specified Ornithine carbamoyltransferase deficiency
Reversed	0
HGVS	NC_000023.10:g.38226603A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000011741.3, RCV000079082.8, RCV000268490.1,