GMPR, guanosine monophosphate reductase, 2766

N. diseases: 18; N. variants: 27
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: rs6459467
rs6459467 		6 16287961 intron variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs10484358
rs10484358 		1.000 0.040 6 16255812 intron variant G/T snv 7.6E-02
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.800 1.000 1 2013 2013
dbSNP: rs1042391
rs1042391 		6 16290530 missense variant T/A;C snv 0.54
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs11969354
rs11969354 		6 16289097 intron variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13215954
rs13215954 		6 16294807 intron variant C/A snv 0.20
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: 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: rs35303804
rs35303804 		6 16261045 intron variant G/A snv 0.40
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs35303804
rs35303804 		6 16261045 intron variant G/A snv 0.40
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs3814453
rs3814453 		6 16236606 upstream gene variant T/G snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4716056
rs4716056 		6 16278159 intron variant A/G snv 0.49
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4716058
rs4716058 		6 16291944 intron variant C/T snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4716059
rs4716059 		6 16292529 intron variant C/T snv 0.14
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6459465
rs6459465 		6 16247899 intron variant G/C snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
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: rs6459467
rs6459467 		6 16287961 intron variant G/A;C snv
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs6723
rs6723 		6 16295358 3 prime UTR variant C/G snv 0.49
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6914805
rs6914805 		6 16280956 intron variant C/T snv 0.33
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs6914805
rs6914805 		6 16280956 intron variant C/T snv 0.33
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6922229
rs6922229 		6 16275469 intron variant C/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6926552
rs6926552 		6 16290631 intron variant T/A;C snv 0.24
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6933491
rs6933491 		6 16268177 intron variant A/G;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7742883
rs7742883 		6 16257985 non coding transcript exon variant A/G snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7752579
rs7752579 		6 16251828 intron variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs7763322
rs7763322 		6 16253864 intron variant T/C snv 0.56
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012