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rs66626662

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs66626662(C;C)
Make rs66626662(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401372
GeneOTC
is asnp
is mentioned by
dbSNPrs66626662
ebirs66626662
HLIrs66626662
Exacrs66626662
Varsomers66626662
Maprs66626662
PheGenIrs66626662
hapmaprs66626662
1000 genomesrs66626662
hgdprs66626662
ensemblrs66626662
gopubmedrs66626662
geneviewrs66626662
scholarrs66626662
googlers66626662
pharmgkbrs66626662
gwascentralrs66626662
openSNPrs66626662
23andMers66626662
23andMe allrs66626662
SNP Nexus

SNPshotrs66626662
SNPdbers66626662
MSV3drs66626662
GWAS Ctlgrs66626662
Max Magnitude0
ClinVar
Risk rs66626662(A,C;A,C)
Alt rs66626662(A,C;A,C)
Reference rs66626662(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.38260625G>A; NC_000023.10:g.38260625G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011750.2, RCV000083456.1, RCV000083457.1,


[PMID 16786505] Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene.


[PMID 1353535OA-icon.png] Site specific screening for point mutations in ornithine transcarbamylase deficiency.