Have questions? Visit https://www.reddit.com/r/SNPedia

rs386833606

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs386833606(-;-)
Make rs386833606(-;GAG)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408790
GeneOAT
is asnp
is mentioned by
dbSNPrs386833606
ebirs386833606
HLIrs386833606
Exacrs386833606
Varsomers386833606
Maprs386833606
PheGenIrs386833606
hapmaprs386833606
1000 genomesrs386833606
hgdprs386833606
ensemblrs386833606
gopubmedrs386833606
geneviewrs386833606
scholarrs386833606
googlers386833606
pharmgkbrs386833606
gwascentralrs386833606
openSNPrs386833606
23andMers386833606
23andMe allrs386833606
SNP Nexus

SNPshotrs386833606
SNPdbers386833606
MSV3drs386833606
GWAS Ctlgrs386833606
Max Magnitude0
ClinVar
Risk rs386833606(;)
Alt rs386833606(;)
Reference rs386833606(GAG;GAG)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097359_126097361delCTC
CLNSRC ClinVar
CLNACC RCV000049533.1,


[PMID 8670789] Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.