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rs386833619

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833619(A;G)
Make rs386833619(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124401841
GeneOAT
is asnp
is mentioned by
dbSNPrs386833619
ebirs386833619
HLIrs386833619
Exacrs386833619
Varsomers386833619
Maprs386833619
PheGenIrs386833619
hapmaprs386833619
1000 genomesrs386833619
hgdprs386833619
ensemblrs386833619
gopubmedrs386833619
geneviewrs386833619
scholarrs386833619
googlers386833619
pharmgkbrs386833619
gwascentralrs386833619
openSNPrs386833619
23andMers386833619
23andMe allrs386833619
SNP Nexus

SNPshotrs386833619
SNPdbers386833619
MSV3drs386833619
GWAS Ctlgrs386833619
Max Magnitude0
ClinVar
Risk rs386833619(G;G)
Alt rs386833619(G;G)
Reference rs386833619(A;A)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126090410T>C
CLNSRC ClinVar
CLNACC RCV000049546.1,


[PMID 1427882] Three novel mutations of the ornithine aminotransferase (OAT) gene in gyrate atrophy.