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

rs386833617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833617(A;A)
Make rs386833617(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position124403821
GeneOAT
is asnp
is mentioned by
dbSNPrs386833617
ebirs386833617
HLIrs386833617
Exacrs386833617
Varsomers386833617
Maprs386833617
PheGenIrs386833617
hapmaprs386833617
1000 genomesrs386833617
hgdprs386833617
ensemblrs386833617
gopubmedrs386833617
geneviewrs386833617
scholarrs386833617
googlers386833617
pharmgkbrs386833617
gwascentralrs386833617
openSNPrs386833617
23andMers386833617
23andMe allrs386833617
SNP Nexus

SNPshotrs386833617
SNPdbers386833617
MSV3drs386833617
GWAS Ctlgrs386833617
Max Magnitude0
ClinVar
Risk rs386833617(A,T;A,T)
Alt rs386833617(A,T;A,T)
Reference rs386833617(C;C)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126092390G>A
CLNSRC ClinVar
CLNACC RCV000049544.1,


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