GMPR, guanosine monophosphate reductase, 2766

N. diseases: 18; N. variants: 27
Disease: Finding of Mean Corpuscular Hemoglobin ×
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: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs6459467
rs6459467 		6 16287961 intron variant G/A;C snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs7765828
rs7765828 		6 16294491 intron variant C/G snv 0.56
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs9477074
rs9477074 		6 16269132 intron variant T/C snv 0.54
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018