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rs431905501

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GTC;GTC) 0 common in clinvar
Make rs431905501(ATG;ATG)
Make rs431905501(ATG;GTC)
ReferenceGRCh38 38.1/142
ChromosomeX
Position78123234
GenePGK1
is asnp
is mentioned by
dbSNPrs431905501
ebirs431905501
HLIrs431905501
Exacrs431905501
Varsomers431905501
Maprs431905501
PheGenIrs431905501
hapmaprs431905501
1000 genomesrs431905501
hgdprs431905501
ensemblrs431905501
gopubmedrs431905501
geneviewrs431905501
scholarrs431905501
googlers431905501
pharmgkbrs431905501
gwascentralrs431905501
openSNPrs431905501
23andMers431905501
23andMe allrs431905501
SNP Nexus

SNPshotrs431905501
SNPdbers431905501
MSV3drs431905501
GWAS Ctlgrs431905501
Max Magnitude0
ClinVar
Risk rs431905501(ATG;ATG)
Alt rs431905501(ATG;ATG)
Reference rs431905501(GTC;GTC)
Significance Pathogenic
Disease Phosphoglycerate kinase 1 deficiency
Variation info
Gene PGK1
CLNDBN Phosphoglycerate kinase 1 deficiency
Reversed 0
HGVS NC_000023.10:g.77378731_77378733delGTCinsATG
CLNSRC OMIM Allelic Variant
CLNACC RCV000010622.2,