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rs67501347

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs67501347(C;G)
Make rs67501347(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38411908
GeneOTC
is asnp
is mentioned by
dbSNPrs67501347
ebirs67501347
HLIrs67501347
Exacrs67501347
Varsomers67501347
Maprs67501347
PheGenIrs67501347
hapmaprs67501347
1000 genomesrs67501347
hgdprs67501347
ensemblrs67501347
gopubmedrs67501347
geneviewrs67501347
scholarrs67501347
googlers67501347
pharmgkbrs67501347
gwascentralrs67501347
openSNPrs67501347
23andMers67501347
23andMe allrs67501347
SNP Nexus

SNPshotrs67501347
SNPdbers67501347
MSV3drs67501347
GWAS Ctlgrs67501347
Max Magnitude0
ClinVar
Risk rs67501347(A,G;A,G)
Alt rs67501347(A,G;A,G)
Reference rs67501347(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38271161C>A; NC_000023.10:g.38271161C>G
CLNSRC ClinVar
CLNACC RCV000083608.1, RCV000083609.1,



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


[PMID 11793483] Identification of seven novel missense mutations, two splice-site mutations, two microdeletions and a polymorphic amino acid substitution in the gene for ornithine transcarbamylase (OTC) in patients with OTC deficiency.