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rs386833609

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(ATAGGAGTG;ATAGGAGTG) 0 common in clinvar
Make rs386833609(-;-)
Make rs386833609(-;GATAGGAGT)
Make rs386833609(GATAGGAGT;GATAGGAGT)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408634
GeneOAT
is asnp
is mentioned by
dbSNPrs386833609
ebirs386833609
HLIrs386833609
Exacrs386833609
Varsomers386833609
Maprs386833609
PheGenIrs386833609
hapmaprs386833609
1000 genomesrs386833609
hgdprs386833609
ensemblrs386833609
gopubmedrs386833609
geneviewrs386833609
scholarrs386833609
googlers386833609
pharmgkbrs386833609
gwascentralrs386833609
openSNPrs386833609
23andMers386833609
23andMe allrs386833609
SNP Nexus

SNPshotrs386833609
SNPdbers386833609
MSV3drs386833609
GWAS Ctlgrs386833609
Max Magnitude0
ClinVar
Risk rs386833609(;)
Alt rs386833609(;)
Reference rs386833609(ATAGGAGTG;ATAGGAGTG)
Significance Other
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097203_126097211delACTCCTATC
CLNSRC OMIM Allelic Variant
CLNACC RCV000000188.3,


[PMID 2220818OA-icon.png] Splicing defect at the ornithine aminotransferase (OAT) locus in gyrate atrophy.