GMPR, guanosine monophosphate reductase, 2766

N. diseases: 18; N. variants: 27
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: rs146771786
rs146771786 		6 16285830 missense variant C/A snv 1.3E-03 1.3E-03
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs869167739
rs869167739 		6 16282288 intron variant G/- del
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016