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rs724159829

From SNPedia

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Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159829(A;A)
Make rs724159829(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position34960519
GenePDHX
is asnp
is mentioned by
dbSNPrs724159829
ebirs724159829
HLIrs724159829
Exacrs724159829
Varsomers724159829
Maprs724159829
PheGenIrs724159829
hapmaprs724159829
1000 genomesrs724159829
hgdprs724159829
ensemblrs724159829
gopubmedrs724159829
geneviewrs724159829
scholarrs724159829
googlers724159829
pharmgkbrs724159829
gwascentralrs724159829
openSNPrs724159829
23andMers724159829
23andMe allrs724159829
SNP Nexus

SNPshotrs724159829
SNPdbers724159829
MSV3drs724159829
GWAS Ctlgrs724159829
Max Magnitude0
ClinVar
Risk rs724159829(A;A)
Alt rs724159829(A;A)
Reference rs724159829(G;G)
Significance Pathogenic
Disease Pyruvate dehydrogenase E3-binding protein deficiency
Variation info
Gene PDHX
CLNDBN Pyruvate dehydrogenase E3-binding protein deficiency
Reversed 0
HGVS NC_000011.9:g.34982066G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002195.3,