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rs386833622

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs386833622(A;A)
Make rs386833622(A;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124401762
GeneOAT
is asnp
is mentioned by
dbSNPrs386833622
ebirs386833622
HLIrs386833622
Exacrs386833622
Varsomers386833622
Maprs386833622
PheGenIrs386833622
hapmaprs386833622
1000 genomesrs386833622
hgdprs386833622
ensemblrs386833622
gopubmedrs386833622
geneviewrs386833622
scholarrs386833622
googlers386833622
pharmgkbrs386833622
gwascentralrs386833622
openSNPrs386833622
23andMers386833622
23andMe allrs386833622
SNP Nexus

SNPshotrs386833622
SNPdbers386833622
MSV3drs386833622
GWAS Ctlgrs386833622
Max Magnitude0
ClinVar
Risk rs386833622(A;A)
Alt rs386833622(A;A)
Reference rs386833622(T;T)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126090331A>T
CLNSRC ClinVar
CLNACC RCV000049549.1,


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