PKLR, pyruvate kinase L/R, 5313

N. diseases: 79; N. variants: 70
Disease: Reticulocyte count (procedure) ×
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: rs116100695
rs116100695 		0.925 0.120 1 155291918 missense variant G/A snv 3.0E-03 2.8E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs141119689
rs141119689 		1 155301643 upstream gene variant A/- del 4.4E-02
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016