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rs724159828

From SNPedia

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Geno Mag Summary
(GAAG;GAAG) 0 common in clinvar
Make rs724159828(-;-)
Make rs724159828(-;GAAG)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position34916742
GeneAPIP, PDHX
is asnp
is mentioned by
dbSNPrs724159828
ebirs724159828
HLIrs724159828
Exacrs724159828
Varsomers724159828
Maprs724159828
PheGenIrs724159828
hapmaprs724159828
1000 genomesrs724159828
hgdprs724159828
ensemblrs724159828
gopubmedrs724159828
geneviewrs724159828
scholarrs724159828
googlers724159828
pharmgkbrs724159828
gwascentralrs724159828
openSNPrs724159828
23andMers724159828
23andMe allrs724159828
SNP Nexus

SNPshotrs724159828
SNPdbers724159828
MSV3drs724159828
GWAS Ctlgrs724159828
Max Magnitude0
ClinVar
Risk rs724159828(;)
Alt rs724159828(;)
Reference rs724159828(GAAG;GAAG)
Significance Pathogenic
Disease Pyruvate dehydrogenase E3-binding protein deficiency
Variation info
Gene APIP PDHX
CLNDBN Pyruvate dehydrogenase E3-binding protein deficiency
Reversed 0
HGVS NC_000011.9:g.34938289_34938292delGAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000002194.3,