TFRC, transferrin receptor, 7037

N. diseases: 359; N. variants: 40
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: rs11915082
rs11915082 		3 196082268 upstream gene variant G/A snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2017
dbSNP: rs3804139
rs3804139 		3 196080754 intron variant T/C snv 0.49
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2018
dbSNP: rs9859260
rs9859260 		3 196073676 intron variant C/A;T snv
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 2 2009 2017
dbSNP: rs863225436
rs863225436 		0.925 0.120 3 196075339 missense variant A/G snv
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.800 1.000 1 2016 2016
dbSNP: rs11185506
rs11185506 		3 196070705 intron variant G/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs11185506
rs11185506 		3 196070705 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: rs113635136
rs113635136 		3 196075973 intron variant AA/-;A;AAA;AAAA delins
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs113635136
rs113635136 		3 196075973 intron variant AA/-;A;AAA;AAAA delins
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: rs113635136
rs113635136 		3 196075973 intron variant AA/-;A;AAA;AAAA delins
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs11715524
rs11715524 		0.925 0.080 3 196035621 intron variant G/A snv 0.54
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
dbSNP: rs11715524
rs11715524 		0.925 0.080 3 196035621 intron variant G/A snv 0.54
CUI: C0035242
Disease: Respiratory Tract Diseases
Respiratory Tract Diseases 		Respiratory Tract Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11715524
rs11715524 		0.925 0.080 3 196035621 intron variant G/A snv 0.54
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs11915082
rs11915082 		3 196082268 upstream gene variant G/A snv 0.31
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13072608
rs13072608 		3 196073396 intron variant C/T snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs13072608
rs13072608 		3 196073396 intron variant C/T snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2284889
rs2284889 		3 196061376 intron variant G/A snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2284889
rs2284889 		3 196061376 intron variant G/A snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2284890
rs2284890 		3 196061276 intron variant T/C snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2284890
rs2284890 		3 196061276 intron variant T/C snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2300774
rs2300774 		3 196066841 intron variant G/A snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2300774
rs2300774 		3 196066841 intron variant G/A snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2300780
rs2300780 		3 196063420 non coding transcript exon variant T/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3326
rs3326 		3 196054635 intron variant G/A snv 0.30
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3326
rs3326 		3 196054635 intron variant G/A snv 0.30
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3761717
rs3761717 		3 196071076 intron variant G/A;C snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009