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rs431905502

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GAA;GAA) 0 common in clinvar
Make rs431905502(-;-)
Make rs431905502(-;AAG)
Make rs431905502(AAG;AAG)
ReferenceGRCh38 38.1/142
ChromosomeX
Position78118103
GenePGK1
is asnp
is mentioned by
dbSNPrs431905502
ebirs431905502
HLIrs431905502
Exacrs431905502
Varsomers431905502
Maprs431905502
PheGenIrs431905502
hapmaprs431905502
1000 genomesrs431905502
hgdprs431905502
ensemblrs431905502
gopubmedrs431905502
geneviewrs431905502
scholarrs431905502
googlers431905502
pharmgkbrs431905502
gwascentralrs431905502
openSNPrs431905502
23andMers431905502
23andMe allrs431905502
SNP Nexus

SNPshotrs431905502
SNPdbers431905502
MSV3drs431905502
GWAS Ctlgrs431905502
Max Magnitude0
ClinVar
Risk rs431905502(;)
Alt rs431905502(;)
Reference rs431905502(GAA;GAA)
Significance Pathogenic
Disease Phosphoglycerate kinase 1 deficiency
Variation info
Gene PGK1
CLNDBN Phosphoglycerate kinase 1 deficiency
Reversed 0
HGVS NC_000023.10:g.77373600_77373602delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010627.4,