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rs137853258

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853258(A;A)
Make rs137853258(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19357683
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853258
ebirs137853258
HLIrs137853258
Exacrs137853258
Varsomers137853258
Maprs137853258
PheGenIrs137853258
hapmaprs137853258
1000 genomesrs137853258
hgdprs137853258
ensemblrs137853258
gopubmedrs137853258
geneviewrs137853258
scholarrs137853258
googlers137853258
pharmgkbrs137853258
gwascentralrs137853258
openSNPrs137853258
23andMers137853258
23andMe allrs137853258
SNP Nexus

SNPshotrs137853258
SNPdbers137853258
MSV3drs137853258
GWAS Ctlgrs137853258
Max Magnitude0
OMIM300502
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137853258(A;A)
Alt rs137853258(A;A)
Reference rs137853258(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.19375801G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011637.8,