TFR2, transferrin receptor 2, 7036

N. diseases: 92; N. variants: 50
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: rs2075672
rs2075672
7 100642673 intron variant A/G snv 0.65
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672
7 100642673 intron variant A/G snv 0.65
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement
0.700 1.000 1 2016 2016
dbSNP: rs2075672
rs2075672
7 100642673 intron variant A/G snv 0.65
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2017 2017
dbSNP: rs2075672
rs2075672
7 100642673 intron variant A/G snv 0.65
Red cell distribution width determination
0.700 1.000 1 2019 2019
dbSNP: rs2075672
rs2075672
7 100642673 intron variant A/G snv 0.65
RDW - Red blood cell distribution width result
0.700 1.000 1 2019 2019
dbSNP: rs4434553
rs4434553
1.000 0.040 7 100642568 intron variant A/G snv 0.40
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2012 2012
dbSNP: rs4434553
rs4434553
1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs4434553
rs4434553
1.000 0.040 7 100642568 intron variant A/G snv 0.40
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs4434553
rs4434553
1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result)
0.700 1.000 1 2012 2012
dbSNP: rs4434553
rs4434553
1.000 0.040 7 100642568 intron variant A/G snv 0.40
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease
Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4548095
rs4548095
7 100629042 intron variant C/T snv 0.69
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2018 2018
dbSNP: rs4727457
rs4727457
7 100638970 intron variant T/C snv 0.87
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs4729597
rs4729597
7 100624226 intron variant C/T snv 0.69
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2019 2019
dbSNP: rs4729597
rs4729597
7 100624226 intron variant C/T snv 0.69
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs4729598
rs4729598
7 100624244 intron variant T/C snv 0.91
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs4729600
rs4729600
7 100639734 intron variant T/C snv 0.87
Corpuscular Hemoglobin Concentration Mean
0.700 1.000 1 2012 2012
dbSNP: rs531909210
rs531909210
7 100641799 intron variant G/A snv 2.8E-03
Red cell distribution width determination
0.700 1.000 1 2017 2017
dbSNP: rs531909210
rs531909210
7 100641799 intron variant G/A snv 2.8E-03
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement
0.700 1.000 1 2016 2016
dbSNP: rs531909210
rs531909210
7 100641799 intron variant G/A snv 2.8E-03
RDW - Red blood cell distribution width result
0.700 1.000 1 2017 2017
dbSNP: rs564636753
rs564636753
7 100639580 intron variant A/-;AA;AAA;AAAA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure)
0.700 1.000 1 2016 2016
dbSNP: rs62482241
rs62482241
7 100637885 intron variant G/A snv 0.23
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement
0.700 1.000 1 2018 2018
dbSNP: rs62482241
rs62482241
7 100637885 intron variant G/A snv 0.23
Finding of Mean Corpuscular Hemoglobin
0.700 1.000 1 2018 2018
dbSNP: rs7385804
rs7385804
0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure
0.700 1.000 1 2009 2009
dbSNP: rs7385804
rs7385804
0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0337439
Disease: Iron measurement
Iron measurement
0.700 1.000 1 2011 2011
dbSNP: rs7385804
rs7385804
0.851 0.120 7 100638347 intron variant C/A snv 0.65
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure
0.800 1.000 1 2009 2009