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rs72554308

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs72554308(A;A)
Make rs72554308(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38367332
GeneOTC
is asnp
is mentioned by
dbSNPrs72554308
ebirs72554308
HLIrs72554308
Exacrs72554308
Varsomers72554308
Maprs72554308
PheGenIrs72554308
hapmaprs72554308
1000 genomesrs72554308
hgdprs72554308
ensemblrs72554308
gopubmedrs72554308
geneviewrs72554308
scholarrs72554308
googlers72554308
pharmgkbrs72554308
gwascentralrs72554308
openSNPrs72554308
23andMers72554308
23andMe allrs72554308
SNP Nexus

SNPshotrs72554308
SNPdbers72554308
MSV3drs72554308
GWAS Ctlgrs72554308
Max Magnitude0
ClinVar
Risk rs72554308(A;A)
Alt rs72554308(A;A)
Reference rs72554308(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.38226585G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011761.9, RCV000083333.1,



[PMID 7951259] Seven new mutations in the human ornithine transcarbamylase gene.