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rs121917898

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs121917898(A;C)
Make rs121917898(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19355393
GenePDHA1
is asnp
is mentioned by
dbSNPrs121917898
ebirs121917898
HLIrs121917898
Exacrs121917898
Varsomers121917898
Maprs121917898
PheGenIrs121917898
hapmaprs121917898
1000 genomesrs121917898
hgdprs121917898
ensemblrs121917898
gopubmedrs121917898
geneviewrs121917898
scholarrs121917898
googlers121917898
pharmgkbrs121917898
gwascentralrs121917898
openSNPrs121917898
23andMers121917898
23andMe allrs121917898
SNP Nexus

SNPshotrs121917898
SNPdbers121917898
MSV3drs121917898
GWAS Ctlgrs121917898
Max Magnitude0
ClinVar
Risk rs121917898(C;C)
Alt rs121917898(C;C)
Reference rs121917898(A;A)
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.19373511A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011640.10,