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rs386833598

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833598(A;A)
Make rs386833598(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124397955
GeneOAT
is asnp
is mentioned by
dbSNPrs386833598
ebirs386833598
HLIrs386833598
Exacrs386833598
Varsomers386833598
Maprs386833598
PheGenIrs386833598
hapmaprs386833598
1000 genomesrs386833598
hgdprs386833598
ensemblrs386833598
gopubmedrs386833598
geneviewrs386833598
scholarrs386833598
googlers386833598
pharmgkbrs386833598
gwascentralrs386833598
openSNPrs386833598
23andMers386833598
23andMe allrs386833598
SNP Nexus

SNPshotrs386833598
SNPdbers386833598
MSV3drs386833598
GWAS Ctlgrs386833598
Max Magnitude0
ClinVar
Risk rs386833598(A;A)
Alt rs386833598(A;A)
Reference rs386833598(T;T)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086524A>T
CLNSRC ClinVar
CLNACC RCV000049524.1,


[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.