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rs386833599

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833599(-;-)
Make rs386833599(-;C)
ReferenceGRCh38 38.1/141
Chromosome10
Position124412013
GeneOAT
is asnp
is mentioned by
dbSNPrs386833599
ebirs386833599
HLIrs386833599
Exacrs386833599
Varsomers386833599
Maprs386833599
PheGenIrs386833599
hapmaprs386833599
1000 genomesrs386833599
hgdprs386833599
ensemblrs386833599
gopubmedrs386833599
geneviewrs386833599
scholarrs386833599
googlers386833599
pharmgkbrs386833599
gwascentralrs386833599
openSNPrs386833599
23andMers386833599
23andMe allrs386833599
SNP Nexus

SNPshotrs386833599
SNPdbers386833599
MSV3drs386833599
GWAS Ctlgrs386833599
Max Magnitude0
ClinVar
Risk rs386833599(;)
Alt rs386833599(;)
Reference rs386833599(C;C)
Significance Other
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126100582delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000000170.3,


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