HBM, hemoglobin subunit mu, 3042

N. diseases: 18; N. variants: 6
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: rs148323035
rs148323035 		16 166091 splice donor variant T/C snv 2.0E-02 8.3E-03
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2017 2017
dbSNP: rs2541638
rs2541638 		16 157612 intron variant T/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2541639
rs2541639 		16 155036 intron variant G/A snv 0.21
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2018 2018
dbSNP: rs2541639
rs2541639 		16 155036 intron variant G/A snv 0.21
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs2541639
rs2541639 		16 155036 intron variant G/A snv 0.21
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2018 2018
dbSNP: rs2541639
rs2541639 		16 155036 intron variant G/A snv 0.21
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs3785309
rs3785309 		16 162650 intron variant C/T snv 0.10
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs3785309
rs3785309 		16 162650 intron variant C/T snv 0.10
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs3785309
rs3785309 		16 162650 intron variant C/T snv 0.10
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: rs7194649
rs7194649 		16 165107 non coding transcript exon variant C/A snv 0.18
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs7194649
rs7194649 		16 165107 non coding transcript exon variant C/A snv 0.18
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs7194649
rs7194649 		16 165107 non coding transcript exon variant C/A snv 0.18
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs3760053
rs3760053 		16 161244 intron variant T/C;G snv
CUI: C0039730
Disease: Thalassemia
Thalassemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017