PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Disease: Phosphoglycerate Kinase 1 Deficiency ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852538
rs137852538 		0.925 0.080 X 78117385 missense variant A/T snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.810 1.000 10 1980 2006
dbSNP: rs137852529
rs137852529 		1.000 0.080 X 78118146 missense variant G/A;C snv 1.1E-05
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1980 1998
dbSNP: rs137852531
rs137852531 		1.000 0.080 X 78113890 missense variant T/C snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1980 1998
dbSNP: rs137852532
rs137852532 		1.000 0.080 X 78117367 missense variant G/T snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1980 1998
dbSNP: rs137852533
rs137852533 		1.000 0.080 X 78124883 missense variant T/C snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1980 1998
dbSNP: rs137852535
rs137852535 		1.000 0.080 X 78123292 missense variant A/T snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 9 1980 1998
dbSNP: rs431905501
rs431905501 		1.000 0.080 X 78123234 missense variant GTC/ATG mnv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs137852534
rs137852534 		0.851 0.120 X 78123196 missense variant T/C snv 1.1E-05
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2006 2006
dbSNP: rs137852528
rs137852528 		1.000 0.080 X 78123240 missense variant G/A snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137852536
rs137852536 		1.000 0.080 X 78113767 missense variant T/A snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137852537
rs137852537 		1.000 0.080 X 78124896 missense variant G/A snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs137852539
rs137852539 		1.000 0.080 X 78125344 missense variant A/C snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs431905502
rs431905502 		1.000 0.080 X 78118099 inframe deletion AAG/- delins
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs431905503
rs431905503 		1.000 0.080 X 78122954 splice region variant G/A snv
CUI: C1970848
Disease: Phosphoglycerate Kinase 1 Deficiency
Phosphoglycerate Kinase 1 Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0