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: 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: 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: 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: 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: 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: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2014 2014
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
dbSNP: rs34252038
rs34252038 		3 133771777 intron variant G/T snv 0.30
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0428578
Disease: Iron level result
Iron level result 		0.700 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C0337439
Disease: Iron measurement
Iron measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2011 2011
dbSNP: rs3811647
rs3811647 		0.807 0.120 3 133765185 intron variant G/A snv 0.31
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 1 2015 2015
dbSNP: rs4854760
rs4854760 		3 133779897 3 prime UTR variant A/G snv 0.35
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6762719
rs6762719 		3 133761973 non coding transcript exon variant A/G snv 0.31
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs6762719
rs6762719 		3 133761973 non coding transcript exon variant A/G snv 0.31
CUI: C1283048
Disease: Iron binding capacity total measurement
Iron binding capacity total measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6762719
rs6762719 		3 133761973 non coding transcript exon variant A/G snv 0.31
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2017 2017
dbSNP: rs6762719
rs6762719 		3 133761973 non coding transcript exon variant A/G snv 0.31
CUI: C0700379
Disease: Total iron binding capacity function
Total iron binding capacity function 		0.700 1.000 1 2017 2017
dbSNP: rs72382362
rs72382362 		3 133773486 non coding transcript exon variant GTGTGTGTGTGTGT/-;GTGT;GTGTGT;GTGTGTGT;GTGTGTGTGT;GTGTGTGTGTGT;GTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGTGTGT;GTGTGTGTGTGTGTGTGTGTGTGT delins 0.29
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2016 2016
dbSNP: rs8177179
rs8177179 		0.925 0.080 3 133744613 intron variant G/A snv 0.58
CUI: C0202105
Disease: Transferrin measurement
Transferrin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs8177179
rs8177179 		0.925 0.080 3 133744613 intron variant G/A snv 0.58
CUI: C0428545
Disease: Serum transferrin measurement
Serum transferrin measurement 		0.700 1.000 1 2014 2014
dbSNP: rs8177240
rs8177240 		3 133758857 intron variant T/C;G snv 0.29
CUI: C1318312
Disease: Serum iron measurement
Serum iron measurement 		0.700 1.000 1 2014 2014
dbSNP: rs8177240
rs8177240 		3 133758857 intron variant T/C;G snv 0.29
CUI: C1277709
Disease: Transferrin saturation measurement
Transferrin saturation measurement 		0.700 1.000 1 2014 2014
dbSNP: rs8177240
rs8177240 		3 133758857 intron variant T/C;G snv 0.29
CUI: C0428545
Disease: Serum transferrin measurement
Serum transferrin measurement 		0.700 1.000 1 2014 2014