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rs869312808

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312808(A;A)
Make rs869312808(A;T)
ReferenceGRCh38.p2 38.2/147
Chromosome4
Position39467554
GeneLIAS
is asnp
is mentioned by
dbSNPrs869312808
ebirs869312808
HLIrs869312808
Exacrs869312808
Varsomers869312808
Maprs869312808
PheGenIrs869312808
hapmaprs869312808
1000 genomesrs869312808
hgdprs869312808
ensemblrs869312808
gopubmedrs869312808
geneviewrs869312808
scholarrs869312808
googlers869312808
pharmgkbrs869312808
gwascentralrs869312808
openSNPrs869312808
23andMers869312808
23andMe allrs869312808
SNP Nexus

SNPshotrs869312808
SNPdbers869312808
MSV3drs869312808
GWAS Ctlgrs869312808
Max Magnitude0
ClinVar
Risk rs869312808(A;A)
Alt rs869312808(A;A)
Reference rs869312808(T;T)
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.39469174T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000210212.1,