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rs431905503

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs431905503(A;A)
Make rs431905503(A;G)
ReferenceGRCh38 38.1/142
ChromosomeX
Position78122954
GenePGK1
is asnp
is mentioned by
dbSNPrs431905503
ebirs431905503
HLIrs431905503
Exacrs431905503
Varsomers431905503
Maprs431905503
PheGenIrs431905503
hapmaprs431905503
1000 genomesrs431905503
hgdprs431905503
ensemblrs431905503
gopubmedrs431905503
geneviewrs431905503
scholarrs431905503
googlers431905503
pharmgkbrs431905503
gwascentralrs431905503
openSNPrs431905503
23andMers431905503
23andMe allrs431905503
SNP Nexus

SNPshotrs431905503
SNPdbers431905503
MSV3drs431905503
GWAS Ctlgrs431905503
Max Magnitude0
ClinVar
Risk rs431905503(A;A)
Alt rs431905503(A;A)
Reference rs431905503(G;G)
Significance Pathogenic
Disease Phosphoglycerate kinase 1 deficiency
Variation info
Gene PGK1
CLNDBN Phosphoglycerate kinase 1 deficiency
Reversed 0
HGVS NC_000023.10:g.77378451G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010633.3,