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rs137853254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853254(C;G)
Make rs137853254(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19355360
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853254
ebirs137853254
HLIrs137853254
Exacrs137853254
Varsomers137853254
Maprs137853254
PheGenIrs137853254
hapmaprs137853254
1000 genomesrs137853254
hgdprs137853254
ensemblrs137853254
gopubmedrs137853254
geneviewrs137853254
scholarrs137853254
googlers137853254
pharmgkbrs137853254
gwascentralrs137853254
openSNPrs137853254
23andMers137853254
23andMe allrs137853254
SNP Nexus

SNPshotrs137853254
SNPdbers137853254
MSV3drs137853254
GWAS Ctlgrs137853254
Max Magnitude0
OMIM300502
Desc
Variant0012
Relatedalso
ClinVar
Risk rs137853254(G,T;G,T)
Alt rs137853254(G,T;G,T)
Reference rs137853254(C;C)
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.19373478C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011629.11,