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rs606231185

From SNPedia

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Geno Mag Summary
(GAAGTAA;GAAGTAA) 0 common in clinvar
Make rs606231185(-;-)
Make rs606231185(-;AGTAAGA)
Make rs606231185(AGTAAGA;AGTAAGA)
ReferenceGRCh38.p2 38.2/144
ChromosomeX
Position19358950
GenePDHA1
is asnp
is mentioned by
dbSNPrs606231185
ebirs606231185
HLIrs606231185
Exacrs606231185
Varsomers606231185
Maprs606231185
PheGenIrs606231185
hapmaprs606231185
1000 genomesrs606231185
hgdprs606231185
ensemblrs606231185
gopubmedrs606231185
geneviewrs606231185
scholarrs606231185
googlers606231185
pharmgkbrs606231185
gwascentralrs606231185
openSNPrs606231185
23andMers606231185
23andMe allrs606231185
SNP Nexus

SNPshotrs606231185
SNPdbers606231185
MSV3drs606231185
GWAS Ctlgrs606231185
Max Magnitude0
ClinVar
Risk rs606231185(;)
Alt rs606231185(;)
Reference rs606231185(GAAGTAA;GAAGTAA)
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.19377068_19377074delAGTAAGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000011619.10,