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: rs1259653415
rs1259653415 		1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1259653415
rs1259653415 		1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1259653415
rs1259653415 		1.000 0.080 3 196071416 missense variant T/C snv 7.0E-06
CUI: C1292778
Disease: Chronic myeloproliferative disorder
Chronic myeloproliferative disorder 		Neoplasms; Hemic and Lymphatic Diseases 0.010 1.000 1 2009 2009
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: rs1341988492
rs1341988492 		1.000 3 196065442 splice donor variant C/A snv
CUI: C4225219
Disease: IMMUNODEFICIENCY 46
IMMUNODEFICIENCY 46 		0.700 0
dbSNP: rs1050153
rs1050153 		0.925 0.120 3 196049444 3 prime UTR variant G/A snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1050153
rs1050153 		0.925 0.120 3 196049444 3 prime UTR variant G/A snv
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.010 1.000 1 2012 2012
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: 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: 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: 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: 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: rs3817672
rs3817672 		0.882 0.240 3 196073940 missense variant C/T snv 0.45 0.43
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 2014 2014
dbSNP: rs3817672
rs3817672 		0.882 0.240 3 196073940 missense variant C/T snv 0.45 0.43
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2014 2014
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
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