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rs386833623

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833623(C;T)
Make rs386833623(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124401749
GeneOAT
is asnp
is mentioned by
dbSNPrs386833623
ebirs386833623
HLIrs386833623
Exacrs386833623
Varsomers386833623
Maprs386833623
PheGenIrs386833623
hapmaprs386833623
1000 genomesrs386833623
hgdprs386833623
ensemblrs386833623
gopubmedrs386833623
geneviewrs386833623
scholarrs386833623
googlers386833623
pharmgkbrs386833623
gwascentralrs386833623
openSNPrs386833623
23andMers386833623
23andMe allrs386833623
SNP Nexus

SNPshotrs386833623
SNPdbers386833623
MSV3drs386833623
GWAS Ctlgrs386833623
Max Magnitude0
ClinVar
Risk rs386833623(T;T)
Alt rs386833623(T;T)
Reference rs386833623(C;C)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126090318G>A
CLNSRC ClinVar
CLNACC RCV000049550.1,


[PMID 23076989] Functional analysis of missense mutations of OAT, causing gyrate atrophy of choroid and retina.