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: rs9859401
rs9859401 		3 196073732 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs9859401
rs9859401 		3 196073732 intron variant C/A;T snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
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: 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
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: 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: 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: rs863225436
rs863225436 		0.925 0.120 3 196075339 missense variant A/G snv
CUI: C0494261
Disease: Combined immunodeficiency
Combined immunodeficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Immune System Diseases 0.700 0
dbSNP: rs779359707
rs779359707 		0.925 0.080 3 196073990 missense variant T/C snv 4.0E-06
CUI: C0018995
Disease: Hemochromatosis
Hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs779359707
rs779359707 		0.925 0.080 3 196073990 missense variant T/C snv 4.0E-06
CUI: C3469186
Disease: HEMOCHROMATOSIS, TYPE 1
HEMOCHROMATOSIS, TYPE 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs770304347
rs770304347 		1.000 0.040 3 196062895 missense variant C/T snv 4.0E-06
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs770304347
rs770304347 		1.000 0.040 3 196062895 missense variant C/T snv 4.0E-06
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
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: 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: 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: 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: 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: 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: rs533268185
rs533268185 		1.000 0.040 3 196068103 missense variant T/C snv 2.4E-05
CUI: C0949445
Disease: Cervical Dystonia
Cervical Dystonia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs533268185
rs533268185 		1.000 0.040 3 196068103 missense variant T/C snv 2.4E-05
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		Nervous System Diseases 0.010 1.000 1 2017 2017
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: 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