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rs137853253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137853253(A;C)
Make rs137853253(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19355699
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853253
ebirs137853253
HLIrs137853253
Exacrs137853253
Varsomers137853253
Maprs137853253
PheGenIrs137853253
hapmaprs137853253
1000 genomesrs137853253
hgdprs137853253
ensemblrs137853253
gopubmedrs137853253
geneviewrs137853253
scholarrs137853253
googlers137853253
pharmgkbrs137853253
gwascentralrs137853253
openSNPrs137853253
23andMers137853253
23andMe allrs137853253
SNP Nexus

SNPshotrs137853253
SNPdbers137853253
MSV3drs137853253
GWAS Ctlgrs137853253
Max Magnitude0
OMIM300502
Desc
Variant0011
Relatedalso
ClinVar
Risk rs137853253(C;C)
Alt rs137853253(C;C)
Reference rs137853253(A;A)
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.19373817A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011628.11,