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rs66500027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66500027(G;T)
Make rs66500027(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408796
GeneOTC
is asnp
is mentioned by
dbSNPrs66500027
ebirs66500027
HLIrs66500027
Exacrs66500027
Varsomers66500027
Maprs66500027
PheGenIrs66500027
hapmaprs66500027
1000 genomesrs66500027
hgdprs66500027
ensemblrs66500027
gopubmedrs66500027
geneviewrs66500027
scholarrs66500027
googlers66500027
pharmgkbrs66500027
gwascentralrs66500027
openSNPrs66500027
23andMers66500027
23andMe allrs66500027
SNP Nexus

SNPshotrs66500027
SNPdbers66500027
MSV3drs66500027
GWAS Ctlgrs66500027
Max Magnitude0
ClinVar
Risk rs66500027(A,T;A,T)
Alt rs66500027(A,T;A,T)
Reference rs66500027(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38268049G>A; NC_000023.10:g.38268049G>T
CLNSRC ClinVar
CLNACC RCV000083542.1, RCV000083543.1,


[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.


[PMID 11117428] Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.