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rs68031618

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs68031618(A;A)
Make rs68031618(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38352773
GeneOTC
is asnp
is mentioned by
dbSNPrs68031618
ebirs68031618
HLIrs68031618
Exacrs68031618
Varsomers68031618
Maprs68031618
PheGenIrs68031618
hapmaprs68031618
1000 genomesrs68031618
hgdprs68031618
ensemblrs68031618
gopubmedrs68031618
geneviewrs68031618
scholarrs68031618
googlers68031618
pharmgkbrs68031618
gwascentralrs68031618
openSNPrs68031618
23andMers68031618
23andMe allrs68031618
SNP Nexus

SNPshotrs68031618
SNPdbers68031618
MSV3drs68031618
GWAS Ctlgrs68031618
Max Magnitude0
ClinVar
Risk rs68031618(A,C;A,C)
Alt rs68031618(A,C;A,C)
Reference rs68031618(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.38212026G>A; NC_000023.10:g.38212026G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011740.6, RCV000083565.2, RCV000083566.1,



[PMID 2474822OA-icon.png] Scanning detection of mutations in human ornithine transcarbamoylase by chemical mismatch cleavage.


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