Have questions? Visit https://www.reddit.com/r/SNPedia

rs72558423

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72558423(C;G)
Make rs72558423(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38403723
GeneOTC
is asnp
is mentioned by
dbSNPrs72558423
ebirs72558423
HLIrs72558423
Exacrs72558423
Varsomers72558423
Maprs72558423
PheGenIrs72558423
hapmaprs72558423
1000 genomesrs72558423
hgdprs72558423
ensemblrs72558423
gopubmedrs72558423
geneviewrs72558423
scholarrs72558423
googlers72558423
pharmgkbrs72558423
gwascentralrs72558423
openSNPrs72558423
23andMers72558423
23andMe allrs72558423
SNP Nexus

SNPshotrs72558423
SNPdbers72558423
MSV3drs72558423
GWAS Ctlgrs72558423
Max Magnitude0
ClinVar
Risk rs72558423(G;G)
Alt rs72558423(G;G)
Reference rs72558423(C;C)
Significance Pathogenic
Disease Ornithine carbamoyltransferase deficiency not provided
Variation info
Gene OTC
CLNDBN Ornithine carbamoyltransferase deficiency not provided
Reversed 0
HGVS NC_000023.10:g.38262976C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011737.5, RCV000083523.1,



[PMID 2474822OA-icon.png] Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.