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rs67156896

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs67156896(A;A)
Make rs67156896(A;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38408949
GeneOTC
is asnp
is mentioned by
dbSNPrs67156896
ebirs67156896
HLIrs67156896
Exacrs67156896
Varsomers67156896
Maprs67156896
PheGenIrs67156896
hapmaprs67156896
1000 genomesrs67156896
hgdprs67156896
ensemblrs67156896
gopubmedrs67156896
geneviewrs67156896
scholarrs67156896
googlers67156896
pharmgkbrs67156896
gwascentralrs67156896
openSNPrs67156896
23andMers67156896
23andMe allrs67156896
SNP Nexus

SNPshotrs67156896
SNPdbers67156896
MSV3drs67156896
GWAS Ctlgrs67156896
Max Magnitude0
ClinVar
Risk rs67156896(A,T;A,T)
Alt rs67156896(A,T;A,T)
Reference rs67156896(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38268202C>A; NC_000023.10:g.38268202C>T
CLNSRC ClinVar
CLNACC RCV000083574.1, RCV000083575.1,



[PMID 12974280] Gene symbol: OTC. Disease: ornithine carbamoyltransferase deficiency.


[PMID 9452024] Ten novel mutations of the ornithine transcarbamylase (OTC) gene in OTC deficiency.