PGK1, phosphoglycerate kinase 1, 5230

N. diseases: 144; N. variants: 122
Disease: Pallor ×
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: rs72554640
rs72554640 		0.882 0.160 X 78011239 stop gained C/T snv
CUI: C0030232
Disease: Pallor
Pallor 		Pathological Conditions, Signs and Symptoms 0.700 0