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rs267606938

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606938(G;T)
Make rs267606938(T;T)
ReferenceGRCh38 38.1/141
Chromosome8
Position93922336
GenePDP1
is asnp
is mentioned by
dbSNPrs267606938
ebirs267606938
HLIrs267606938
Exacrs267606938
Varsomers267606938
Maprs267606938
PheGenIrs267606938
hapmaprs267606938
1000 genomesrs267606938
hgdprs267606938
ensemblrs267606938
gopubmedrs267606938
geneviewrs267606938
scholarrs267606938
googlers267606938
pharmgkbrs267606938
gwascentralrs267606938
openSNPrs267606938
23andMers267606938
23andMe allrs267606938
SNP Nexus

SNPshotrs267606938
SNPdbers267606938
MSV3drs267606938
GWAS Ctlgrs267606938
Max Magnitude0
ClinVar
Risk rs267606938(T;T)
Alt rs267606938(T;T)
Reference rs267606938(G;G)
Significance Pathogenic
Disease Pyruvate dehydrogenase phosphatase deficiency
Variation info
Gene PDP1
CLNDBN Pyruvate dehydrogenase phosphatase deficiency
Reversed 0
HGVS NC_000008.10:g.94934564G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000004928.3,