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

rs28933391

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0
Make rs28933391(C;T)
Make rs28933391(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position58428084
GenePDHB
is asnp
is mentioned by
dbSNPrs28933391
ebirs28933391
HLIrs28933391
Exacrs28933391
Varsomers28933391
Maprs28933391
PheGenIrs28933391
hapmaprs28933391
1000 genomesrs28933391
hgdprs28933391
ensemblrs28933391
gopubmedrs28933391
geneviewrs28933391
scholarrs28933391
googlers28933391
pharmgkbrs28933391
gwascentralrs28933391
openSNPrs28933391
23andMers28933391
23andMe allrs28933391
SNP Nexus

SNPshotrs28933391
SNPdbers28933391
MSV3drs28933391
GWAS Ctlgrs28933391
Max Magnitude0
OMIM179060
DescPYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
Variant0002
Relatedalso


ClinVar
Risk rs28933391(T;T)
Alt rs28933391(T;T)
Reference rs28933391(C;C)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-beta deficiency
Variation info
Gene PDHB
CLNDBN Pyruvate dehydrogenase E1-beta deficiency
Reversed 1
HGVS NC_000003.11:g.58413811G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014077.23,