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rs886042089

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
ChromosomeX
Position19355385
GenePDHA1
is asnp
is mentioned by
dbSNPrs886042089
dbSNP (classic)rs886042089
ClinGenrs886042089
ebirs886042089
HLIrs886042089
Exacrs886042089
Gnomadrs886042089
Varsomers886042089
LitVarrs886042089
Maprs886042089
PheGenIrs886042089
Biobankrs886042089
1000 genomesrs886042089
hgdprs886042089
ensemblrs886042089
geneviewrs886042089
scholarrs886042089
googlers886042089
pharmgkbrs886042089
gwascentralrs886042089
openSNPrs886042089
23andMers886042089
23andMe allrs886042089
SNPshotrs886042089
SNPdbers886042089
MSV3drs886042089
GWAS Ctlgrs886042089
Max Magnitude0
ClinVar
Risk rs886042089(C;C)
Alt rs886042089(C;C)
Reference Rs886042089(T;T)
Significance Probable-Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency
Variation info
Gene PDHA1
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency
Reversed 0
HGVS NC_000023.10:g.19373503T>C
CLNSRC
CLNACC RCV000292563.1,