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rs1057518702

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057518702(A;G)
Make rs1057518702(G;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position19351258
GenePDHA1
is asnp
is mentioned by
dbSNPrs1057518702
dbSNP (old)rs1057518702
ClinGenrs1057518702
ebirs1057518702
HLIrs1057518702
Exacrs1057518702
Gnomadrs1057518702
Varsomers1057518702
Maprs1057518702
PheGenIrs1057518702
Biobankrs1057518702
1000 genomesrs1057518702
hgdprs1057518702
ensemblrs1057518702
gopubmedrs1057518702
geneviewrs1057518702
scholarrs1057518702
googlers1057518702
pharmgkbrs1057518702
gwascentralrs1057518702
openSNPrs1057518702
23andMers1057518702
23andMe allrs1057518702
SNPshotrs1057518702
SNPdbers1057518702
MSV3drs1057518702
GWAS Ctlgrs1057518702
Max Magnitude0
ClinVar
Risk rs1057518702(G;G)
Alt rs1057518702(G;G)
Reference Rs1057518702(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.19369376A>G
CLNSRC
CLNACC RCV000415131.1,