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rs386833605

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833605(A;A)
Make rs386833605(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408803
GeneOAT
is asnp
is mentioned by
dbSNPrs386833605
ebirs386833605
HLIrs386833605
Exacrs386833605
Varsomers386833605
Maprs386833605
PheGenIrs386833605
hapmaprs386833605
1000 genomesrs386833605
hgdprs386833605
ensemblrs386833605
gopubmedrs386833605
geneviewrs386833605
scholarrs386833605
googlers386833605
pharmgkbrs386833605
gwascentralrs386833605
openSNPrs386833605
23andMers386833605
23andMe allrs386833605
SNP Nexus

SNPshotrs386833605
SNPdbers386833605
MSV3drs386833605
GWAS Ctlgrs386833605
Max Magnitude0
ClinVar
Risk rs386833605(A;A)
Alt rs386833605(A;A)
Reference rs386833605(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097372C>T
CLNSRC ClinVar
CLNACC RCV000049532.1,


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