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rs386833614

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs386833614(G;T)
Make rs386833614(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124405501
GeneOAT
is asnp
is mentioned by
dbSNPrs386833614
ebirs386833614
HLIrs386833614
Exacrs386833614
Varsomers386833614
Maprs386833614
PheGenIrs386833614
hapmaprs386833614
1000 genomesrs386833614
hgdprs386833614
ensemblrs386833614
gopubmedrs386833614
geneviewrs386833614
scholarrs386833614
googlers386833614
pharmgkbrs386833614
gwascentralrs386833614
openSNPrs386833614
23andMers386833614
23andMe allrs386833614
SNP Nexus

SNPshotrs386833614
SNPdbers386833614
MSV3drs386833614
GWAS Ctlgrs386833614
Max Magnitude0
ClinVar
Risk rs386833614(T;T)
Alt rs386833614(T;T)
Reference rs386833614(G;G)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126094070C>A
CLNSRC ClinVar
CLNACC RCV000049541.1,


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