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rs72554331

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554331(A;A)
Make rs72554331(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38369815
GeneOTC
is asnp
is mentioned by
dbSNPrs72554331
ebirs72554331
HLIrs72554331
Exacrs72554331
Varsomers72554331
Maprs72554331
PheGenIrs72554331
hapmaprs72554331
1000 genomesrs72554331
hgdprs72554331
ensemblrs72554331
gopubmedrs72554331
geneviewrs72554331
scholarrs72554331
googlers72554331
pharmgkbrs72554331
gwascentralrs72554331
openSNPrs72554331
23andMers72554331
23andMe allrs72554331
SNP Nexus

SNPshotrs72554331
SNPdbers72554331
MSV3drs72554331
GWAS Ctlgrs72554331
Max Magnitude0
OMIM300461
Desc
Variant0021
Relatedalso


ClinVar
Risk rs72554331(A;A)
Alt rs72554331(A;A)
Reference rs72554331(G;G)
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.38229068G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011753.9, RCV000083369.1,



[PMID 1480464] Six new mutations in the ornithine transcarbamylase gene detected by single-strand conformational polymorphism.