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rs137853251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(TAAG;TAAG) 0 common in clinvar
Make rs137853251(-;-)
Make rs137853251(-;G)
Make rs137853251(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19358953
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853251
ebirs137853251
HLIrs137853251
Exacrs137853251
Varsomers137853251
Maprs137853251
PheGenIrs137853251
hapmaprs137853251
1000 genomesrs137853251
hgdprs137853251
ensemblrs137853251
gopubmedrs137853251
geneviewrs137853251
scholarrs137853251
googlers137853251
pharmgkbrs137853251
gwascentralrs137853251
openSNPrs137853251
23andMers137853251
23andMe allrs137853251
SNP Nexus

SNPshotrs137853251
SNPdbers137853251
MSV3drs137853251
GWAS Ctlgrs137853251
Max Magnitude0
OMIM300502
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137853251(T,TG;T,TG)
Alt rs137853251(T,TG;T,TG)
Reference rs137853251(AAG;AAG)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency
Variation info
Gene PDHA1
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency
Reversed 0
HGVS NC_000023.10:g.19377071_19377073delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000011621.4,