Have questions? Visit https://www.reddit.com/r/SNPedia

rs724159979

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs724159979(-;-)
Make rs724159979(-;C)
ReferenceGRCh38.p2 38.2/144
Chromosome11
Position34960497
GenePDHX
is asnp
is mentioned by
dbSNPrs724159979
ebirs724159979
HLIrs724159979
Exacrs724159979
Varsomers724159979
Maprs724159979
PheGenIrs724159979
hapmaprs724159979
1000 genomesrs724159979
hgdprs724159979
ensemblrs724159979
gopubmedrs724159979
geneviewrs724159979
scholarrs724159979
googlers724159979
pharmgkbrs724159979
gwascentralrs724159979
openSNPrs724159979
23andMers724159979
23andMe allrs724159979
SNP Nexus

SNPshotrs724159979
SNPdbers724159979
MSV3drs724159979
GWAS Ctlgrs724159979
Max Magnitude0
ClinVar
Risk rs724159979(;)
Alt rs724159979(;)
Reference rs724159979(C;C)
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.34982044delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000002197.3,