TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
Disease: Hemoglobin measurement ×
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: 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: 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: 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: rs228907
rs228907 		22 37101553 intron variant G/A snv 0.33
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs228918
rs228918 		22 37110640 upstream gene variant T/C snv 0.40
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs228919
rs228919 		22 37110673 upstream gene variant G/T snv 0.40
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs228921
rs228921 		22 37110836 upstream gene variant A/G snv 0.41
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2009 2009
dbSNP: rs5756504
rs5756504 		22 37071230 intron variant C/G;T snv
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2010 2010
dbSNP: rs5756519
rs5756519 		22 37112384 upstream gene variant G/C snv 0.41
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs5756520
rs5756520 		22 37112467 upstream gene variant G/A snv 0.41
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2009 2009