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rs386833603

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833603(A;A)
Make rs386833603(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408893
GeneOAT
is asnp
is mentioned by
dbSNPrs386833603
ebirs386833603
HLIrs386833603
Exacrs386833603
Varsomers386833603
Maprs386833603
PheGenIrs386833603
hapmaprs386833603
1000 genomesrs386833603
hgdprs386833603
ensemblrs386833603
gopubmedrs386833603
geneviewrs386833603
scholarrs386833603
googlers386833603
pharmgkbrs386833603
gwascentralrs386833603
openSNPrs386833603
23andMers386833603
23andMe allrs386833603
SNP Nexus

SNPshotrs386833603
SNPdbers386833603
MSV3drs386833603
GWAS Ctlgrs386833603
Max Magnitude0
ClinVar
Risk rs386833603(A;A)
Alt rs386833603(A;A)
Reference rs386833603(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097462C>T
CLNSRC ClinVar
CLNACC RCV000049530.1,


[PMID 22182799] Retinal structure, function, and molecular pathologic features in gyrate atrophy.