BPGM, bisphosphoglycerate mutase, 669

N. diseases: 10; N. variants: 3
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: rs121964925
rs121964925 		1.000 0.080 7 134661775 missense variant C/T snv 8.0E-06
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 3 1989 2004
dbSNP: rs751972865
rs751972865 		1.000 0.080 7 134661692 missense variant G/A snv 8.0E-06 7.0E-06
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs786205092
rs786205092 		1.000 0.080 7 134661567 frameshift variant C/- delins
CUI: C1291620
Disease: Deficiency of bisphosphoglycerate mutase
Deficiency of bisphosphoglycerate mutase 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 0