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rs144133667

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs144133667(A;A)
Make rs144133667(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position39470027
GeneLIAS
is asnp
is mentioned by
dbSNPrs144133667
ebirs144133667
HLIrs144133667
Exacrs144133667
Varsomers144133667
Maprs144133667
PheGenIrs144133667
hapmaprs144133667
1000 genomesrs144133667
hgdprs144133667
ensemblrs144133667
gopubmedrs144133667
geneviewrs144133667
scholarrs144133667
googlers144133667
pharmgkbrs144133667
gwascentralrs144133667
openSNPrs144133667
23andMers144133667
23andMe allrs144133667
SNP Nexus

SNPshotrs144133667
SNPdbers144133667
MSV3drs144133667
GWAS Ctlgrs144133667
Max Magnitude0
ClinVar
Risk rs144133667(A;A)
Alt rs144133667(A;A)
Reference rs144133667(G;G)
Significance Pathogenic
Disease Pyruvate dehydrogenase lipoic acid synthetase deficiency
Variation info
Gene LIAS
CLNDBN Pyruvate dehydrogenase lipoic acid synthetase deficiency
Reversed 0
HGVS NC_000004.11:g.39471647G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023604.3,