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rs72558431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs72558431(C;C)
Make rs72558431(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408797
GeneOTC
is asnp
is mentioned by
dbSNPrs72558431
ebirs72558431
HLIrs72558431
Exacrs72558431
Varsomers72558431
Maprs72558431
PheGenIrs72558431
hapmaprs72558431
1000 genomesrs72558431
hgdprs72558431
ensemblrs72558431
gopubmedrs72558431
geneviewrs72558431
scholarrs72558431
googlers72558431
pharmgkbrs72558431
gwascentralrs72558431
openSNPrs72558431
23andMers72558431
23andMe allrs72558431
SNP Nexus

SNPshotrs72558431
SNPdbers72558431
MSV3drs72558431
GWAS Ctlgrs72558431
Max Magnitude0
ClinVar
Risk rs72558431(C;C)
Alt rs72558431(C;C)
Reference rs72558431(T;T)
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.38268050T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011743.6, RCV000083544.1,



[PMID 2035531OA-icon.png] Identification of RNA splicing errors resulting in human ornithine transcarbamylase deficiency.