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: 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: 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: 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: 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: 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: 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: 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: 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: rs146556082
rs146556082 		1.000 0.040 3 196064339 missense variant C/T snv 4.0E-06 2.1E-05
CUI: C2749929
Disease: Musician's Dystonia
Musician's Dystonia 		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: 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: 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: 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: 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: 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: 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: 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: rs1468034466
rs1468034466 		0.851 0.120 3 196074028 synonymous variant T/C snv
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis 		Nutritional and Metabolic Diseases; Nervous System Diseases 0.030 1.000 3 2013 2015
dbSNP: rs3817672
rs3817672 		0.882 0.240 3 196073940 missense variant C/T snv 0.45 0.43
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.010 1.000 1 2015 2015