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rs72558454

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72558454(C;T)
Make rs72558454(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408987
GeneOTC
is asnp
is mentioned by
dbSNPrs72558454
ebirs72558454
HLIrs72558454
Exacrs72558454
Varsomers72558454
Maprs72558454
PheGenIrs72558454
hapmaprs72558454
1000 genomesrs72558454
hgdprs72558454
ensemblrs72558454
gopubmedrs72558454
geneviewrs72558454
scholarrs72558454
googlers72558454
pharmgkbrs72558454
gwascentralrs72558454
openSNPrs72558454
23andMers72558454
23andMe allrs72558454
SNP Nexus

SNPshotrs72558454
SNPdbers72558454
MSV3drs72558454
GWAS Ctlgrs72558454
Max Magnitude0
ClinVar
Risk rs72558454(T;T)
Alt rs72558454(T;T)
Reference rs72558454(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.38268240C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011746.2, RCV000083586.2,



[PMID 2246687] Late-onset ornithine transcarbamylase deficiency in male patients.