TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
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: rs137853119
rs137853119 		1.000 0.080 22 37075180 missense variant C/T snv 4.0E-06 3.5E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 12 2008 2015
dbSNP: rs137853120
rs137853120 		1.000 0.080 22 37073553 missense variant C/T snv 2.8E-05 6.3E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 12 2008 2015
dbSNP: rs267607121
rs267607121 		1.000 0.080 22 37098426 missense variant G/T snv 8.0E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 12 2008 2015
dbSNP: rs387907018
rs387907018 		1.000 0.080 22 37073550 missense variant C/T snv 1.6E-05 2.1E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.800 1.000 12 2008 2015
dbSNP: rs855791
rs855791 		0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.800 1.000 8 2009 2018
dbSNP: rs855791
rs855791 		0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 7 2010 2019
dbSNP: rs855791
rs855791 		0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 7 2010 2019
dbSNP: rs855791
rs855791 		0.701 0.400 22 37066896 missense variant A/G;T snv 0.57; 4.0E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 7 2010 2018
dbSNP: rs2413450
rs2413450 		22 37074184 intron variant T/C snv 0.61
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 3 2009 2017
dbSNP: rs2413450
rs2413450 		22 37074184 intron variant T/C snv 0.61
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 3 2012 2017
dbSNP: rs4820268
rs4820268 		0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.800 1.000 3 2009 2017
dbSNP: rs4820268
rs4820268 		0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 3 2010 2019
dbSNP: rs228918
rs228918 		22 37110640 upstream gene variant T/C snv 0.40
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs2413450
rs2413450 		22 37074184 intron variant T/C snv 0.61
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.800 1.000 2 2009 2017
dbSNP: rs2413450
rs2413450 		22 37074184 intron variant T/C snv 0.61
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.800 1.000 2 2009 2017
dbSNP: rs2413450
rs2413450 		22 37074184 intron variant T/C snv 0.61
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 2 2009 2017
dbSNP: rs4820268
rs4820268 		0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.800 1.000 2 2009 2012
dbSNP: rs4820268
rs4820268 		0.851 0.160 22 37073551 missense variant G/A;C snv 0.53; 4.0E-06
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2009 2012
dbSNP: rs855788
rs855788 		22 37078039 intron variant G/A snv 0.51
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.800 1.000 2 2012 2019
dbSNP: rs769083817
rs769083817 		1.000 0.080 22 37070545 missense variant C/A;G snv 3.2E-05; 5.6E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.720 1.000 13 2008 2018
dbSNP: rs776180387
rs776180387 		1.000 0.080 22 37089629 missense variant C/T snv 2.0E-05 4.9E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.710 1.000 12 2008 2015
dbSNP: rs1430692214
rs1430692214 		1.000 0.080 22 37096657 missense variant T/C snv 5.8E-06
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 12 2008 2015
dbSNP: rs1449962575
rs1449962575 		1.000 0.080 22 37089581 missense variant G/T snv 1.4E-05
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 12 2008 2015
dbSNP: rs199474802
rs199474802 		1.000 0.080 22 37089737 missense variant A/G snv
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 12 2008 2015
dbSNP: rs199474803
rs199474803 		1.000 0.080 22 37098439 missense variant C/T snv
CUI: C0085576
Disease: Iron-Refractory Iron Deficiency Anemia
Iron-Refractory Iron Deficiency Anemia 		Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases 0.700 1.000 12 2008 2015