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rs386833613

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833613(C;T)
Make rs386833613(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124405542
GeneOAT
is asnp
is mentioned by
dbSNPrs386833613
ebirs386833613
HLIrs386833613
Exacrs386833613
Varsomers386833613
Maprs386833613
PheGenIrs386833613
hapmaprs386833613
1000 genomesrs386833613
hgdprs386833613
ensemblrs386833613
gopubmedrs386833613
geneviewrs386833613
scholarrs386833613
googlers386833613
pharmgkbrs386833613
gwascentralrs386833613
openSNPrs386833613
23andMers386833613
23andMe allrs386833613
SNP Nexus

SNPshotrs386833613
SNPdbers386833613
MSV3drs386833613
GWAS Ctlgrs386833613
Max Magnitude0
ClinVar
Risk rs386833613(T;T)
Alt rs386833613(T;T)
Reference rs386833613(C;C)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126094111G>A
CLNSRC ClinVar
CLNACC RCV000049540.1,


[PMID 8670789] Heterogeneity and uniqueness of ornithine aminotransferase mutations found in Japanese gyrate atrophy patients.