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

rs387906998

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906998(A;A)
Make rs387906998(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position34916699
GeneAPIP, PDHX
is asnp
is mentioned by
dbSNPrs387906998
ebirs387906998
HLIrs387906998
Exacrs387906998
Varsomers387906998
Maprs387906998
PheGenIrs387906998
hapmaprs387906998
1000 genomesrs387906998
hgdprs387906998
ensemblrs387906998
gopubmedrs387906998
geneviewrs387906998
scholarrs387906998
googlers387906998
pharmgkbrs387906998
gwascentralrs387906998
openSNPrs387906998
23andMers387906998
23andMe allrs387906998
SNP Nexus

SNPshotrs387906998
SNPdbers387906998
MSV3drs387906998
GWAS Ctlgrs387906998
Max Magnitude0
ClinVar
Risk rs387906998(A;A)
Alt rs387906998(A;A)
Reference rs387906998(G;G)
Significance Pathogenic
Disease Pyruvate dehydrogenase E3-binding protein deficiency not specified
Variation info
Gene PDHX APIP
CLNDBN Pyruvate dehydrogenase E3-binding protein deficiency not specified
Reversed 0
HGVS NC_000011.9:g.34938246G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023731.4, RCV000198591.1,