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rs386833615

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs386833615(A;G)
Make rs386833615(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position124403871
GeneOAT
is asnp
is mentioned by
dbSNPrs386833615
ebirs386833615
HLIrs386833615
Exacrs386833615
Varsomers386833615
Maprs386833615
PheGenIrs386833615
hapmaprs386833615
1000 genomesrs386833615
hgdprs386833615
ensemblrs386833615
gopubmedrs386833615
geneviewrs386833615
scholarrs386833615
googlers386833615
pharmgkbrs386833615
gwascentralrs386833615
openSNPrs386833615
23andMers386833615
23andMe allrs386833615
SNP Nexus

SNPshotrs386833615
SNPdbers386833615
MSV3drs386833615
GWAS Ctlgrs386833615
Max Magnitude0
ClinVar
Risk rs386833615(G;G)
Alt rs386833615(G;G)
Reference rs386833615(A;A)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126092440T>C
CLNSRC ClinVar
CLNACC RCV000049542.1,


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