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rs386833611

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TATACCGTGAAGGGC;TATACCGTGAAGGGC) 0 common in clinvar
Make rs386833611(-;-)
Make rs386833611(-;TATACCGTGAAGGGC)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408576
GeneOAT
is asnp
is mentioned by
dbSNPrs386833611
ebirs386833611
HLIrs386833611
Exacrs386833611
Varsomers386833611
Maprs386833611
PheGenIrs386833611
hapmaprs386833611
1000 genomesrs386833611
hgdprs386833611
ensemblrs386833611
gopubmedrs386833611
geneviewrs386833611
scholarrs386833611
googlers386833611
pharmgkbrs386833611
gwascentralrs386833611
openSNPrs386833611
23andMers386833611
23andMe allrs386833611
SNP Nexus

SNPshotrs386833611
SNPdbers386833611
MSV3drs386833611
GWAS Ctlgrs386833611
Max Magnitude0
ClinVar
Risk rs386833611(;)
Alt rs386833611(;)
Reference rs386833611(TATACCGTGAAGGGC;TATACCGTGAAGGGC)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097145_126097159delGCCCTTCACGGTATA
CLNSRC ClinVar
CLNACC RCV000049538.1,


[PMID 1301936] A 15-bp deletion in exon 5 of the ornithine aminotransferase (OAT) locus associated with gyrate atrophy.