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rs606231190

From SNPedia

Orientationplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs606231190(-;-)
Make rs606231190(-;T)
Make rs606231190(T;T)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position19357681
GenePDHA1
is asnp
is mentioned by
dbSNPrs606231190
ebirs606231190
HLIrs606231190
Exacrs606231190
Varsomers606231190
Maprs606231190
PheGenIrs606231190
hapmaprs606231190
1000 genomesrs606231190
hgdprs606231190
ensemblrs606231190
gopubmedrs606231190
geneviewrs606231190
scholarrs606231190
googlers606231190
pharmgkbrs606231190
gwascentralrs606231190
openSNPrs606231190
23andMers606231190
23andMe allrs606231190
SNP Nexus

SNPshotrs606231190
SNPdbers606231190
MSV3drs606231190
GWAS Ctlgrs606231190
Max Magnitude0
ClinVar
Risk rs606231190(T;T)
Alt rs606231190(T;T)
Reference rs606231190(;)
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.19375799_19375800insT
CLNSRC OMIM Allelic Variant
CLNACC RCV000011633.11,