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rs869320760

From SNPedia

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Geno Mag Summary
(GAG;GAG) 0 common in clinvar
Make rs869320760(AAA;AAA)
Make rs869320760(AAA;GAG)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position39465127
GeneLIAS
is asnp
is mentioned by
dbSNPrs869320760
ebirs869320760
HLIrs869320760
Exacrs869320760
Varsomers869320760
Maprs869320760
PheGenIrs869320760
hapmaprs869320760
1000 genomesrs869320760
hgdprs869320760
ensemblrs869320760
gopubmedrs869320760
geneviewrs869320760
scholarrs869320760
googlers869320760
pharmgkbrs869320760
gwascentralrs869320760
openSNPrs869320760
23andMers869320760
23andMe allrs869320760
SNP Nexus

SNPshotrs869320760
SNPdbers869320760
MSV3drs869320760
GWAS Ctlgrs869320760
Max Magnitude0
ClinVar
Risk rs869320760(AAA;AAA)
Alt rs869320760(AAA;AAA)
Reference rs869320760(GAG;GAG)
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.39466747_39466749delGAGinsAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000210221.1,