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rs28935769

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28935769(A;G)
Make rs28935769(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position58430851
GenePDHB
is asnp
is mentioned by
dbSNPrs28935769
ebirs28935769
HLIrs28935769
Exacrs28935769
Varsomers28935769
Maprs28935769
PheGenIrs28935769
hapmaprs28935769
1000 genomesrs28935769
hgdprs28935769
ensemblrs28935769
gopubmedrs28935769
geneviewrs28935769
scholarrs28935769
googlers28935769
pharmgkbrs28935769
gwascentralrs28935769
openSNPrs28935769
23andMers28935769
23andMe allrs28935769
SNP Nexus

SNPshotrs28935769
SNPdbers28935769
MSV3drs28935769
GWAS Ctlgrs28935769
Max Magnitude0
OMIM179060
DescPYRUVATE DEHYDROGENASE E1-BETA DEFICIENCY
Variant0001
Relatedalso


ClinVar
Risk rs28935769(G;G)
Alt rs28935769(G;G)
Reference rs28935769(A;A)
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.58416578T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000014076.24,