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rs1800321

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1800321(A;G)
Make rs1800321(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38367350
GeneOTC
is asnp
is mentioned by
dbSNPrs1800321
ebirs1800321
HLIrs1800321
Exacrs1800321
Varsomers1800321
Maprs1800321
PheGenIrs1800321
hapmaprs1800321
1000 genomesrs1800321
hgdprs1800321
ensemblrs1800321
gopubmedrs1800321
geneviewrs1800321
scholarrs1800321
googlers1800321
pharmgkbrs1800321
gwascentralrs1800321
openSNPrs1800321
23andMers1800321
23andMe allrs1800321
SNP Nexus

SNPshotrs1800321
SNPdbers1800321
MSV3drs1800321
GWAS Ctlgrs1800321
GMAF0.1971
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM300461
DescORNITHINE TRANSCARBAMYLASE POLYMORPHISM
Variant0009
Relatedalso


[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
Variation info
Gene OTC
CLNDBN ORNITHINE TRANSCARBAMYLASE POLYMORPHISM not specified
Reversed 0
HGVS NC_000023.10:g.38226603A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011741.2, RCV000079082.7,



GET Evidence
OTC-K46R
aa_change Lys46Arg
aa_change_short K46R
impact benign
qualified_impact Insufficiently evaluated benign
overall_frequency 0.29356
summary