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rs137853256

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853256(A;A)
Make rs137853256(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19358959
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853256
ebirs137853256
HLIrs137853256
Exacrs137853256
Varsomers137853256
Maprs137853256
PheGenIrs137853256
hapmaprs137853256
1000 genomesrs137853256
hgdprs137853256
ensemblrs137853256
gopubmedrs137853256
geneviewrs137853256
scholarrs137853256
googlers137853256
pharmgkbrs137853256
gwascentralrs137853256
openSNPrs137853256
23andMers137853256
23andMe allrs137853256
SNP Nexus

SNPshotrs137853256
SNPdbers137853256
MSV3drs137853256
GWAS Ctlgrs137853256
Max Magnitude0
OMIM300502
Desc
Variant0014
Relatedalso
ClinVar
Risk rs137853256(A;A)
Alt rs137853256(A;A)
Reference rs137853256(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.19377077G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011631.7,