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rs67651903

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67651903(A;A)
Make rs67651903(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38381360
GeneOTC
is asnp
is mentioned by
dbSNPrs67651903
dbSNP (classic)rs67651903
ClinGenrs67651903
ebirs67651903
HLIrs67651903
Exacrs67651903
Gnomadrs67651903
Varsomers67651903
LitVarrs67651903
Maprs67651903
PheGenIrs67651903
Biobankrs67651903
1000 genomesrs67651903
hgdprs67651903
ensemblrs67651903
geneviewrs67651903
scholarrs67651903
googlers67651903
pharmgkbrs67651903
gwascentralrs67651903
openSNPrs67651903
23andMers67651903
SNPshotrs67651903
SNPdbers67651903
MSV3drs67651903
GWAS Ctlgrs67651903
Max Magnitude0
ClinVar
Risk rs67651903(A;A) rs67651903(T;T)
Alt rs67651903(A;A) rs67651903(T;T)
Reference Rs67651903(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38240613G>A; NC_000023.10:g.38240613G>T
CLNSRC ClinVar
CLNACC RCV000083401.1, RCV000083402.1,



[PMID 12136059] Distinctly abnormal brain metabolism in late-onset ornithine transcarbamylase deficiency.


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