rs137852538, PGK1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Phosphoglycerate Kinase 1 Deficiency
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
18 0.925 0.080 X 78117385 missense variant A/T snv 0.810 1.000 10 1980 2006
Deficiency of phosphoglycerate kinase
CUI: C0684324
Disease: Deficiency of phosphoglycerate kinase
6 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2006 2006
Parkinsonian Disorders
CUI: C0242422
Disease: Parkinsonian Disorders
95 0.925 0.080 X 78117385 missense variant A/T snv 0.010 1.000 1 2019 2019