TF, transferrin, 7018

N. diseases: 168; N. variants: 74
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: rs121918679
rs121918679 		1.000 0.080 3 133766376 missense variant G/A;C;T snv 1.2E-05; 8.0E-06; 4.0E-06
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2000 2004
dbSNP: rs121918681
rs121918681 		1.000 0.080 3 133753607 missense variant G/A snv 7.0E-06
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.800 1.000 2 2000 2004
dbSNP: rs1049296
rs1049296 		0.882 0.120 3 133775510 missense variant C/T snv 0.16 0.14
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.800 1.000 1 2011 2011
dbSNP: rs1799899
rs1799899 		1.000 0.080 3 133756968 missense variant G/A snv 5.2E-02 4.5E-02
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.800 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.800 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0392514
Disease: Hereditary hemochromatosis
Hereditary hemochromatosis 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.710 1.000 1 2015 2015
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0202105
Disease: Transferrin measurement
Transferrin measurement 		0.700 1.000 2 2011 2015
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0428545
Disease: Serum transferrin measurement
Serum transferrin measurement 		0.700 1.000 2 2011 2015
dbSNP: rs773139494
rs773139494 		1.000 0.080 3 133775570 missense variant C/A;T snv 1.2E-05
CUI: C0521802
Disease: Congenital atransferrinemia
Congenital atransferrinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.700 1.000 2 2000 2007
dbSNP: rs1049296
rs1049296 		0.882 0.120 3 133775510 missense variant C/T snv 0.16 0.14
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs10935073
rs10935073 		3 133720340 intron variant T/C snv 0.34
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs1115219
rs1115219 		1.000 0.040 3 133776173 intron variant T/C snv 0.23
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs11921527
rs11921527 		3 133722323 intron variant G/A;C snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs12639304
rs12639304 		3 133722750 intron variant A/T snv 0.42
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs1358022
rs1358022 		1.000 0.040 3 133768777 intron variant C/G snv 0.26
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1358023
rs1358023 		3 133765549 intron variant T/C snv 0.32
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs1358024
rs1358024 		3 133765344 intron variant C/T snv 0.13
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs150854910
rs150854910 		3 133757925 missense variant C/T snv 8.4E-04 9.4E-04
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs150854910
rs150854910 		3 133757925 missense variant C/T snv 8.4E-04 9.4E-04
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs1525889
rs1525889 		3 133771189 intron variant A/C snv 0.29
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs1525892
rs1525892 		1.000 0.040 3 133765868 intron variant G/A;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1525892
rs1525892 		1.000 0.040 3 133765868 intron variant G/A;T snv
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs1799852
rs1799852 		3 133756878 synonymous variant C/T snv 0.13 0.11
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2011 2011
dbSNP: rs1799852
rs1799852 		3 133756878 synonymous variant C/T snv 0.13 0.11
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs1799852
rs1799852 		3 133756878 synonymous variant C/T snv 0.13 0.11
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019