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rs386833618

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs386833618(C;T)
Make rs386833618(T;T)
ReferenceGRCh38 38.1/141
Chromosome10
Position124403027
GeneOAT
is asnp
is mentioned by
dbSNPrs386833618
ebirs386833618
HLIrs386833618
Exacrs386833618
Varsomers386833618
Maprs386833618
PheGenIrs386833618
hapmaprs386833618
1000 genomesrs386833618
hgdprs386833618
ensemblrs386833618
gopubmedrs386833618
geneviewrs386833618
scholarrs386833618
googlers386833618
pharmgkbrs386833618
gwascentralrs386833618
openSNPrs386833618
23andMers386833618
23andMe allrs386833618
SNP Nexus

SNPshotrs386833618
SNPdbers386833618
MSV3drs386833618
GWAS Ctlgrs386833618
Max Magnitude0
ClinVar
Risk rs386833618(T;T)
Alt rs386833618(T;T)
Reference rs386833618(C;C)
Significance Probable-Pathogenic
Disease Ornithine aminotransferase deficiency
Variation info
Gene OAT
CLNDBN Ornithine aminotransferase deficiency
Reversed 1
HGVS NC_000010.10:g.126091596G>A
CLNSRC ClinVar
CLNACC RCV000049545.1,


[PMID 1737786] Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences.