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rs386833596

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833596(A;A)
Make rs386833596(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124398090
GeneOAT
is asnp
is mentioned by
dbSNPrs386833596
ebirs386833596
HLIrs386833596
Exacrs386833596
Varsomers386833596
Maprs386833596
PheGenIrs386833596
hapmaprs386833596
1000 genomesrs386833596
hgdprs386833596
ensemblrs386833596
gopubmedrs386833596
geneviewrs386833596
scholarrs386833596
googlers386833596
pharmgkbrs386833596
gwascentralrs386833596
openSNPrs386833596
23andMers386833596
23andMe allrs386833596
SNP Nexus

SNPshotrs386833596
SNPdbers386833596
MSV3drs386833596
GWAS Ctlgrs386833596
Max Magnitude0
ClinVar
Risk rs386833596(A;A)
Alt rs386833596(A;A)
Reference rs386833596(G;G)
Significance Other
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126086659C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000000194.4,


[PMID 1612597] Strand-separating conformational polymorphism analysis: efficacy of detection of point mutations in the human ornithine delta-aminotransferase gene.