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rs72554307

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs72554307(C;T)
Make rs72554307(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38367331
GeneOTC
is asnp
is mentioned by
dbSNPrs72554307
ebirs72554307
HLIrs72554307
Exacrs72554307
Varsomers72554307
Maprs72554307
PheGenIrs72554307
hapmaprs72554307
1000 genomesrs72554307
hgdprs72554307
ensemblrs72554307
gopubmedrs72554307
geneviewrs72554307
scholarrs72554307
googlers72554307
pharmgkbrs72554307
gwascentralrs72554307
openSNPrs72554307
23andMers72554307
23andMe allrs72554307
SNP Nexus

SNPshotrs72554307
SNPdbers72554307
MSV3drs72554307
GWAS Ctlgrs72554307
Max Magnitude0
ClinVar
Risk rs72554307(T;T)
Alt rs72554307(T;T)
Reference rs72554307(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.38226584C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011760.5, RCV000083332.1,


[PMID 8956038] Ornithine transcarbamylase deficiency: characterization of gene mutations and polymorphisms.