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

rs386833607

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(;) 0 common in clinvar
Make rs386833607(-;-)
Make rs386833607(-;T)
Make rs386833607(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408783
GeneOAT
is asnp
is mentioned by
dbSNPrs386833607
ebirs386833607
HLIrs386833607
Exacrs386833607
Varsomers386833607
Maprs386833607
PheGenIrs386833607
hapmaprs386833607
1000 genomesrs386833607
hgdprs386833607
ensemblrs386833607
gopubmedrs386833607
geneviewrs386833607
scholarrs386833607
googlers386833607
pharmgkbrs386833607
gwascentralrs386833607
openSNPrs386833607
23andMers386833607
23andMe allrs386833607
SNP Nexus

SNPshotrs386833607
SNPdbers386833607
MSV3drs386833607
GWAS Ctlgrs386833607
Max Magnitude0
ClinVar
Risk rs386833607(T;T)
Alt rs386833607(T;T)
Reference rs386833607(;)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097353dupA
CLNSRC ClinVar
CLNACC RCV000049534.1,


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