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rs67077695

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs67077695(G;T)
Make rs67077695(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position38352774
GeneOTC
is asnp
is mentioned by
dbSNPrs67077695
dbSNP (classic)rs67077695
ClinGenrs67077695
ebirs67077695
HLIrs67077695
Exacrs67077695
Gnomadrs67077695
Varsomers67077695
LitVarrs67077695
Maprs67077695
PheGenIrs67077695
Biobankrs67077695
1000 genomesrs67077695
hgdprs67077695
ensemblrs67077695
geneviewrs67077695
scholarrs67077695
googlers67077695
pharmgkbrs67077695
gwascentralrs67077695
openSNPrs67077695
23andMers67077695
SNPshotrs67077695
SNPdbers67077695
MSV3drs67077695
GWAS Ctlgrs67077695
Max Magnitude0
ClinVar
Risk rs67077695(A;A) rs67077695(T;T)
Alt rs67077695(A;A) rs67077695(T;T)
Reference Rs67077695(G;G)
Significance Pathogenic
Disease not provided
Variation info
Gene OTC
CLNDBN not provided
Reversed 0
HGVS NC_000023.10:g.38212027G>A; NC_000023.10:g.38212027G>T
CLNSRC ClinVar
CLNACC RCV000083559.1, RCV000083560.1,



[PMID 9266388] Identification of 'private' mutations in patients with ornithine transcarbamylase deficiency.


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