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rs386833594

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833594(-;-)
Make rs386833594(-;A)
ReferenceGRCh38 38.1/141
Chromosome10
Position124400968
GeneOAT
is asnp
is mentioned by
dbSNPrs386833594
ebirs386833594
HLIrs386833594
Exacrs386833594
Varsomers386833594
Maprs386833594
PheGenIrs386833594
hapmaprs386833594
1000 genomesrs386833594
hgdprs386833594
ensemblrs386833594
gopubmedrs386833594
geneviewrs386833594
scholarrs386833594
googlers386833594
pharmgkbrs386833594
gwascentralrs386833594
openSNPrs386833594
23andMers386833594
23andMe allrs386833594
SNP Nexus

SNPshotrs386833594
SNPdbers386833594
MSV3drs386833594
GWAS Ctlgrs386833594
Max Magnitude0
ClinVar
Risk rs386833594(;)
Alt rs386833594(;)
Reference rs386833594(A;A)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126089537delT
CLNSRC ClinVar
CLNACC RCV000049520.1,


[PMID 1737786] Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.