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rs137853255

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137853255(A;A)
Make rs137853255(A;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position19355472
GenePDHA1
is asnp
is mentioned by
dbSNPrs137853255
ebirs137853255
HLIrs137853255
Exacrs137853255
Varsomers137853255
Maprs137853255
PheGenIrs137853255
hapmaprs137853255
1000 genomesrs137853255
hgdprs137853255
ensemblrs137853255
gopubmedrs137853255
geneviewrs137853255
scholarrs137853255
googlers137853255
pharmgkbrs137853255
gwascentralrs137853255
openSNPrs137853255
23andMers137853255
23andMe allrs137853255
SNP Nexus

SNPshotrs137853255
SNPdbers137853255
MSV3drs137853255
GWAS Ctlgrs137853255
Max Magnitude0
OMIM300502
Desc
Variant0013
Relatedalso
ClinVar
Risk rs137853255(A;A)
Alt rs137853255(A;A)
Reference rs137853255(T;T)
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.19373590T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011630.3,