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rs794729213

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs794729213(A;A)
Make rs794729213(A;G)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position19353085
GenePDHA1
is asnp
is mentioned by
dbSNPrs794729213
ebirs794729213
HLIrs794729213
Exacrs794729213
Varsomers794729213
Maprs794729213
PheGenIrs794729213
hapmaprs794729213
1000 genomesrs794729213
hgdprs794729213
ensemblrs794729213
gopubmedrs794729213
geneviewrs794729213
scholarrs794729213
googlers794729213
pharmgkbrs794729213
gwascentralrs794729213
openSNPrs794729213
23andMers794729213
23andMe allrs794729213
SNP Nexus

SNPshotrs794729213
SNPdbers794729213
MSV3drs794729213
GWAS Ctlgrs794729213
Max Magnitude0
ClinVar
Risk rs794729213(A;A)
Alt rs794729213(A;A)
Reference rs794729213(G;G)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency
Variation info
Gene PDHA1
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency
Reversed 0
HGVS NC_000023.10:g.19371203G>A
CLNSRC
CLNACC RCV000184034.1,