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rs724159830

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs724159830(A;A)
Make rs724159830(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position34984569
GenePDHX
is asnp
is mentioned by
dbSNPrs724159830
ebirs724159830
HLIrs724159830
Exacrs724159830
Varsomers724159830
Maprs724159830
PheGenIrs724159830
hapmaprs724159830
1000 genomesrs724159830
hgdprs724159830
ensemblrs724159830
gopubmedrs724159830
geneviewrs724159830
scholarrs724159830
googlers724159830
pharmgkbrs724159830
gwascentralrs724159830
openSNPrs724159830
23andMers724159830
23andMe allrs724159830
SNP Nexus

SNPshotrs724159830
SNPdbers724159830
MSV3drs724159830
GWAS Ctlgrs724159830
Max Magnitude0
ClinVar
Risk rs724159830(A;A)
Alt rs724159830(A;A)
Reference rs724159830(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.35006116G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000002196.3,