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rs137853259

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853259(C;G)
Make rs137853259(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19355713
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853259
ebirs137853259
HLIrs137853259
Exacrs137853259
Varsomers137853259
Maprs137853259
PheGenIrs137853259
hapmaprs137853259
1000 genomesrs137853259
hgdprs137853259
ensemblrs137853259
gopubmedrs137853259
geneviewrs137853259
scholarrs137853259
googlers137853259
pharmgkbrs137853259
gwascentralrs137853259
openSNPrs137853259
23andMers137853259
23andMe allrs137853259
SNP Nexus

SNPshotrs137853259
SNPdbers137853259
MSV3drs137853259
GWAS Ctlgrs137853259
Max Magnitude0
OMIM300502
Desc
Variant0022
Relatedalso
ClinVar
Risk rs137853259(G;G)
Alt rs137853259(G;G)
Reference rs137853259(C;C)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency not provided
Variation info
Gene PDHA1
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency not provided
Reversed 0
HGVS NC_000023.10:g.19373831C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011625.5, RCV000196576.2,