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: 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: 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: 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: rs13055107
rs13055107 		22 37073781 intron variant G/A snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1421312
rs1421312 		22 37091770 intron variant A/G snv 0.45
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs1421312
rs1421312 		22 37091770 intron variant A/G snv 0.45
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs1421312
rs1421312 		22 37091770 intron variant A/G snv 0.45
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs1421312
rs1421312 		22 37091770 intron variant A/G snv 0.45
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2012 2012
dbSNP: rs17750152
rs17750152 		22 37101986 intron variant C/T snv 0.25
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2017764
rs2017764 		22 37098875 intron variant G/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2017764
rs2017764 		22 37098875 intron variant G/A;C snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2019848
rs2019848 		22 37090225 intron variant G/A snv 0.15
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2019848
rs2019848 		22 37090225 intron variant G/A snv 0.15
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2072860
rs2072860 		22 37074564 intron variant G/A snv 0.53 0.59
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2076085
rs2076085 		22 37074001 intron variant C/A snv 0.59
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs2160906
rs2160906 		22 37097138 intron variant G/A snv 0.17
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2160906
rs2160906 		22 37097138 intron variant G/A snv 0.17
CUI: C0474535
Disease: Mean corpuscular hemoglobin concentration determination
Mean corpuscular hemoglobin concentration determination 		0.700 1.000 1 2012 2012
dbSNP: rs2160906
rs2160906 		22 37097138 intron variant G/A snv 0.17
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2012 2012
dbSNP: rs2235323
rs2235323 		22 37089153 intron variant T/C snv 0.40
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2235323
rs2235323 		22 37089153 intron variant T/C snv 0.40
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009
dbSNP: rs2235329
rs2235329 		22 37106383 intron variant T/C snv 0.36
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs2251655
rs2251655 		22 37094652 intron variant C/T snv 0.42
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2009 2009