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rs386833610

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833610(A;A)
Make rs386833610(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408637
GeneOAT
is asnp
is mentioned by
dbSNPrs386833610
ebirs386833610
HLIrs386833610
Exacrs386833610
Varsomers386833610
Maprs386833610
PheGenIrs386833610
hapmaprs386833610
1000 genomesrs386833610
hgdprs386833610
ensemblrs386833610
gopubmedrs386833610
geneviewrs386833610
scholarrs386833610
googlers386833610
pharmgkbrs386833610
gwascentralrs386833610
openSNPrs386833610
23andMers386833610
23andMe allrs386833610
SNP Nexus

SNPshotrs386833610
SNPdbers386833610
MSV3drs386833610
GWAS Ctlgrs386833610
Max Magnitude0
ClinVar
Risk rs386833610(A;A)
Alt rs386833610(A;A)
Reference rs386833610(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097206C>T
CLNSRC ClinVar
CLNACC RCV000049537.1,


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