TF, transferrin, 7018

N. diseases: 47; N. variants: 70
Source: CURATED ×
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: rs8177240
rs8177240 		3 133758857 intron variant T/C;G snv 0.29
CUI: C0202105
Disease: Transferrin measurement
Transferrin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs8177247
rs8177247 		3 133760655 non coding transcript exon variant T/G snv 0.31
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs8177248
rs8177248 		1.000 0.040 3 133760782 non coding transcript exon variant C/T snv 0.28
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2017 2017
dbSNP: rs8177248
rs8177248 		1.000 0.040 3 133760782 non coding transcript exon variant C/T snv 0.28
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2017 2017
dbSNP: rs8177253
rs8177253 		1.000 0.040 3 133761348 non coding transcript exon variant C/T snv 0.31
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2015 2015
dbSNP: rs8177253
rs8177253 		1.000 0.040 3 133761348 non coding transcript exon variant C/T snv 0.31
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2015 2015
dbSNP: rs8177297
rs8177297 		3 133772601 intron variant C/A;T snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs8177318
rs8177318 		3 133748533 missense variant T/A snv 1.6E-04 2.9E-04
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs8177318
rs8177318 		3 133748533 missense variant T/A snv 1.6E-04 2.9E-04
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2016 2016
dbSNP: rs8177318
rs8177318 		3 133748533 missense variant T/A snv 1.6E-04 2.9E-04
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs8177318
rs8177318 		3 133748533 missense variant T/A snv 1.6E-04 2.9E-04
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: rs8177318
rs8177318 		3 133748533 missense variant T/A snv 1.6E-04 2.9E-04
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8177318
rs8177318 		3 133748533 missense variant T/A snv 1.6E-04 2.9E-04
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs8177318
rs8177318 		3 133748533 missense variant T/A snv 1.6E-04 2.9E-04
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs9843728
rs9843728 		3 133782563 3 prime UTR variant C/A;T snv
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs9872999
rs9872999 		3 133738670 intron variant C/G;T snv
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2015 2015
dbSNP: rs9872999
rs9872999 		3 133738670 intron variant C/G;T snv
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2015 2015
dbSNP: rs121918676
rs121918676 		3 133756969 missense variant G/A snv 7.0E-06
CUI: C3889615
Disease: TRANSFERRIN VARIANT D1 PHENOTYPE
TRANSFERRIN VARIANT D1 PHENOTYPE 		0.700 0
dbSNP: rs121918677
rs121918677 		3 133777188 missense variant G/A;T snv 2.5E-03; 1.2E-05
CUI: C3889617
Disease: TRANSFERRIN VARIANT B2 PHENOTYPE
TRANSFERRIN VARIANT B2 PHENOTYPE 		0.700 0
dbSNP: rs121918678
rs121918678 		3 133777112 missense variant A/G snv
CUI: C3889619
Disease: TRANSFERRIN VARIANT Bv PHENOTYPE
TRANSFERRIN VARIANT Bv PHENOTYPE 		0.700 0
dbSNP: rs41295774
rs41295774 		3 133757854 missense variant A/G snv 3.3E-03 2.2E-03
CUI: C4225610
Disease: TRANSFERRIN VARIANT D(CHI)
TRANSFERRIN VARIANT D(CHI) 		0.700 0
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: 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: 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