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rs113309941

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs113309941(C;T)
Make rs113309941(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position34966740
GenePDHX
is asnp
is mentioned by
dbSNPrs113309941
ebirs113309941
HLIrs113309941
Exacrs113309941
Varsomers113309941
Maprs113309941
PheGenIrs113309941
hapmaprs113309941
1000 genomesrs113309941
hgdprs113309941
ensemblrs113309941
gopubmedrs113309941
geneviewrs113309941
scholarrs113309941
googlers113309941
pharmgkbrs113309941
gwascentralrs113309941
openSNPrs113309941
23andMers113309941
23andMe allrs113309941
SNP Nexus

SNPshotrs113309941
SNPdbers113309941
MSV3drs113309941
GWAS Ctlgrs113309941
Max Magnitude0
OMIM608769
Desc
Variant0008
Relatedalso
ClinVar
Risk rs113309941(G,T;G,T)
Alt rs113309941(G,T;G,T)
Reference rs113309941(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.34988287C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000002199.3,