HBB, hemoglobin subunit beta, 3043

N. diseases: 272; N. variants: 188
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: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 2 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 2 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 2 2017 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 2 2019 2019
dbSNP: rs1003586
rs1003586 		11 5228140 intron variant C/T snv 0.13
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination 		0.700 1.000 1 2008 2008
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0018935
Disease: Hematocrit procedure
Hematocrit procedure 		0.700 1.000 1 2017 2017
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200637
Disease: Monocyte count procedure
Monocyte count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200633
Disease: Neutrophil count (procedure)
Neutrophil count (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0750880
Disease: Monocyte count result
Monocyte count result 		0.700 1.000 1 2019 2019
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs33930165
rs33930165 		0.882 0.120 11 5227003 missense variant C/G;T snv 9.2E-04; 4.4E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2017 2017
dbSNP: rs1141387
rs1141387 		1.000 11 5226789 missense variant C/A;G snv
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
ERYTHROCYTOSIS, FAMILIAL, 6 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C4693797
Disease: METHEMOGLOBINEMIA, BETA TYPE
METHEMOGLOBINEMIA, BETA TYPE 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		0.700 0
dbSNP: rs11549407
rs11549407 		0.752 0.080 11 5226774 stop gained G/A;C;T snv 3.3E-04
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1 		0.700 0
dbSNP: rs334
rs334 		0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
MALARIA, SUSCEPTIBILITY TO (finding) 		0.700 0