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: rs3761717
rs3761717 		3 196071076 intron variant G/A;C snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3789135
rs3789135 		3 196065999 intron variant C/A snv 0.46
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs3804139
rs3804139 		3 196080754 intron variant T/C snv 0.49
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3817672
rs3817672 		0.882 0.240 3 196073940 missense variant C/T snv 0.45 0.43
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs3933
rs3933 		3 196058126 non coding transcript exon variant G/A snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs406271
rs406271 		3 196050105 3 prime UTR variant T/C snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs41300435
rs41300435 		3 196077150 intron variant G/A snv 0.20; 4.0E-06 0.19
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: rs41300435
rs41300435 		3 196077150 intron variant G/A snv 0.20; 4.0E-06 0.19
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs454516
rs454516 		3 196066524 intron variant G/C snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs4927850
rs4927850 		0.925 0.120 3 196024759 intron variant T/C snv 0.71
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4927850
rs4927850 		0.925 0.120 3 196024759 intron variant T/C snv 0.71
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4927858
rs4927858 		3 196045068 intron variant A/G snv 0.41
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs4927866
rs4927866 		3 196069178 intron variant G/T snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs55649226
rs55649226 		3 196076452 intron variant TTTT/-;T;TT;TTT;TTTTT;TTTTTT;TTTTTTT;TTTTTTTTTTTT delins 0.45
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs557527
rs557527 		3 196053838 intron variant G/A snv 0.32
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6583288
rs6583288 		3 196082693 upstream gene variant A/G snv 0.19
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs6791763
rs6791763 		3 196031033 intron variant C/T snv 0.58
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs714602
rs714602 		3 196067108 intron variant T/C snv 0.30
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs7619708
rs7619708 		3 196083316 upstream gene variant T/C snv 0.19
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: rs7619708
rs7619708 		3 196083316 upstream gene variant T/C snv 0.19
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs9846149
rs9846149 		3 196060437 non coding transcript exon variant C/G snv 0.48
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs9846149
rs9846149 		3 196060437 non coding transcript exon variant C/G snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9858727
rs9858727 		3 196067370 intron variant A/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: rs9858727
rs9858727 		3 196067370 intron variant A/T snv 0.48
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9859260
rs9859260 		3 196073676 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012