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rs386833602

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833602(A;A)
Make rs386833602(A;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408898
GeneOAT
is asnp
is mentioned by
dbSNPrs386833602
ebirs386833602
HLIrs386833602
Exacrs386833602
Varsomers386833602
Maprs386833602
PheGenIrs386833602
hapmaprs386833602
1000 genomesrs386833602
hgdprs386833602
ensemblrs386833602
gopubmedrs386833602
geneviewrs386833602
scholarrs386833602
googlers386833602
pharmgkbrs386833602
gwascentralrs386833602
openSNPrs386833602
23andMers386833602
23andMe allrs386833602
SNP Nexus

SNPshotrs386833602
SNPdbers386833602
MSV3drs386833602
GWAS Ctlgrs386833602
Max Magnitude0
ClinVar
Risk rs386833602(A;A)
Alt rs386833602(A;A)
Reference rs386833602(C;C)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097467G>T
CLNSRC ClinVar
CLNACC RCV000049529.1,


[PMID 1737786] Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.