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rs137853257

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853257(C;C)
Make rs137853257(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19344066
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853257
ebirs137853257
HLIrs137853257
Exacrs137853257
Varsomers137853257
Maprs137853257
PheGenIrs137853257
hapmaprs137853257
1000 genomesrs137853257
hgdprs137853257
ensemblrs137853257
gopubmedrs137853257
geneviewrs137853257
scholarrs137853257
googlers137853257
pharmgkbrs137853257
gwascentralrs137853257
openSNPrs137853257
23andMers137853257
23andMe allrs137853257
SNP Nexus

SNPshotrs137853257
SNPdbers137853257
MSV3drs137853257
GWAS Ctlgrs137853257
Max Magnitude0
OMIM300502
Desc
Variant0017
Relatedalso
ClinVar
Risk rs137853257(C;C)
Alt rs137853257(C;C)
Reference rs137853257(G;G)
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.19362184G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011634.4,