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rs67960011

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs67960011(C;G)
Make rs67960011(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38401309
GeneOTC
is asnp
is mentioned by
dbSNPrs67960011
ebirs67960011
HLIrs67960011
Exacrs67960011
Varsomers67960011
Maprs67960011
PheGenIrs67960011
hapmaprs67960011
1000 genomesrs67960011
hgdprs67960011
ensemblrs67960011
gopubmedrs67960011
geneviewrs67960011
scholarrs67960011
googlers67960011
pharmgkbrs67960011
gwascentralrs67960011
openSNPrs67960011
23andMers67960011
23andMe allrs67960011
SNP Nexus

SNPshotrs67960011
SNPdbers67960011
MSV3drs67960011
GWAS Ctlgrs67960011
Max Magnitude0
OMIM300461
Desc
Variant0003
Relatedalso
ClinVar
Risk rs67960011(G,T;G,T)
Alt rs67960011(G,T;G,T)
Reference rs67960011(C;C)
Significance Pathogenic
Disease not provided Ornithine carbamoyltransferase deficiency
Variation info
Gene OTC
CLNDBN not provided Ornithine carbamoyltransferase deficiency
Reversed 0
HGVS NC_000023.10:g.38260562C>G; NC_000023.10:g.38260562C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000083432.1, RCV000011735.6, RCV000083433.1,


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

[PMID 2741942OA-icon.png] Ornithine transcarbamylase deficiency resulting from a C-to-T substitution in exon 5 of the ornithine transcarbamylase gene.