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: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 3 2012 2017
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs9801017
rs9801017 		7 100638579 intron variant G/A snv 0.65
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2016 2017
dbSNP: rs9801017
rs9801017 		7 100638579 intron variant G/A snv 0.65
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2016 2017
dbSNP: rs1052897
rs1052897 		7 100643148 3 prime UTR variant A/T snv 0.88
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs139178017
rs139178017 		7 100628224 splice region variant C/T snv 3.1E-03 2.8E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs139178017
rs139178017 		7 100628224 splice region variant C/T snv 3.1E-03 2.8E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2017 2017
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
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs2075672
rs2075672 		7 100642673 intron variant A/G snv 0.65
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: rs41295942
rs41295942 		7 100621008 missense variant C/T snv 2.0E-02 2.2E-02
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs41295942
rs41295942 		7 100621008 missense variant C/T snv 2.0E-02 2.2E-02
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs4548095
rs4548095 		7 100629042 intron variant C/T snv 0.69
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs4727457
rs4727457 		7 100638970 intron variant T/C snv 0.87
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4729597
rs4729597 		7 100624226 intron variant C/T snv 0.69
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
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
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4729600
rs4729600 		7 100639734 intron variant T/C snv 0.87
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs531909210
rs531909210 		7 100641799 intron variant G/A snv 2.8E-03
CUI: C0427460
Disease: Red cell distribution width determination
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
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
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