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rs386833608

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833608(A;G)
Make rs386833608(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124408639
GeneOAT
is asnp
is mentioned by
dbSNPrs386833608
ClinGenrs386833608
ebirs386833608
HLIrs386833608
Exacrs386833608
Varsomers386833608
Maprs386833608
PheGenIrs386833608
hapmaprs386833608
1000 genomesrs386833608
hgdprs386833608
ensemblrs386833608
gopubmedrs386833608
geneviewrs386833608
scholarrs386833608
googlers386833608
pharmgkbrs386833608
gwascentralrs386833608
openSNPrs386833608
23andMers386833608
23andMe allrs386833608
SNP Nexus

SNPshotrs386833608
SNPdbers386833608
MSV3drs386833608
GWAS Ctlgrs386833608
Max Magnitude0
ClinVar
Risk rs386833608(G;G)
Alt rs386833608(G;G)
Reference Rs386833608(A;A)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126097208T>C
CLNSRC ClinVar
CLNACC RCV000049535.1,


[PMID 1487247] A single-base change at a splice acceptor site in the ornithine aminotransferase gene causes abnormal RNA splicing in gyrate atrophy.