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rs67468335

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs67468335(C;C)
Make rs67468335(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38411901
GeneOTC
is asnp
is mentioned by
dbSNPrs67468335
ebirs67468335
HLIrs67468335
Exacrs67468335
Varsomers67468335
Maprs67468335
PheGenIrs67468335
hapmaprs67468335
1000 genomesrs67468335
hgdprs67468335
ensemblrs67468335
gopubmedrs67468335
geneviewrs67468335
scholarrs67468335
googlers67468335
pharmgkbrs67468335
gwascentralrs67468335
openSNPrs67468335
23andMers67468335
23andMe allrs67468335
SNP Nexus

SNPshotrs67468335
SNPdbers67468335
MSV3drs67468335
GWAS Ctlgrs67468335
Max Magnitude0
ClinVar
Risk rs67468335(C,G;C,G)
Alt rs67468335(C,G;C,G)
Reference rs67468335(T;T)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38271154T>C; NC_000023.10:g.38271154T>G
CLNSRC ClinVar
CLNACC RCV000083604.1, RCV000083605.1,



[PMID 9452049] Novel intragenic deletions and point mutations of the ornithine transcarbamylase gene in congenital hyperammonemia.


[PMID 11793468] Mutations and polymorphisms in the human ornithine transcarbamylase gene.