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rs137853252

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853252(C;T)
Make rs137853252(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19358920
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853252
ebirs137853252
HLIrs137853252
Exacrs137853252
Varsomers137853252
Maprs137853252
PheGenIrs137853252
hapmaprs137853252
1000 genomesrs137853252
hgdprs137853252
ensemblrs137853252
gopubmedrs137853252
geneviewrs137853252
scholarrs137853252
googlers137853252
pharmgkbrs137853252
gwascentralrs137853252
openSNPrs137853252
23andMers137853252
23andMe allrs137853252
SNP Nexus

SNPshotrs137853252
SNPdbers137853252
MSV3drs137853252
GWAS Ctlgrs137853252
Max Magnitude0
OMIM300502
Desc
Variant0009
Relatedalso
ClinVar
Risk rs137853252(T;T)
Alt rs137853252(T;T)
Reference rs137853252(C;C)
Significance Pathogenic
Disease Pyruvate dehydrogenase E1-alpha deficiency not provided
Variation info
Gene PDHA1
CLNDBN Pyruvate dehydrogenase E1-alpha deficiency not provided
Reversed 0
HGVS NC_000023.10:g.19377038C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011626.4, RCV000199671.1,