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rs386833616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833616(A;A)
Make rs386833616(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124403859
GeneOAT
is asnp
is mentioned by
dbSNPrs386833616
ebirs386833616
HLIrs386833616
Exacrs386833616
Varsomers386833616
Maprs386833616
PheGenIrs386833616
hapmaprs386833616
1000 genomesrs386833616
hgdprs386833616
ensemblrs386833616
gopubmedrs386833616
geneviewrs386833616
scholarrs386833616
googlers386833616
pharmgkbrs386833616
gwascentralrs386833616
openSNPrs386833616
23andMers386833616
23andMe allrs386833616
SNP Nexus

SNPshotrs386833616
SNPdbers386833616
MSV3drs386833616
GWAS Ctlgrs386833616
Max Magnitude0
ClinVar
Risk rs386833616(A;A)
Alt rs386833616(A;A)
Reference rs386833616(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126092428C>T
CLNSRC ClinVar
CLNACC RCV000049543.1,


[PMID 15750329] Vitamin B6-responsive ornithine aminotransferase deficiency with a novel mutation G237D.