rs334, HBB

N. diseases: 35
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Beta Thalassemia, Dominant Inclusion Body Type
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
14 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 0
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
20 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 0
Heinz Body Anemias
CUI: C0700299
Disease: Heinz Body Anemias
19 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 0
MALARIA, SUSCEPTIBILITY TO (finding)
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
23 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 0
Blood basophil count (lab test)
CUI: C0200641
Disease: Blood basophil count (lab test)
452 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Diabetes
CUI: C0011847
Disease: Diabetes
710 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Diabetes Mellitus
CUI: C0011849
Disease: Diabetes Mellitus
824 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
1144 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Glomerular Filtration Rate
CUI: C0017654
Disease: Glomerular Filtration Rate
1033 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Hematocrit procedure
CUI: C0018935
Disease: Hematocrit procedure
216 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2017 2017
Monocyte count procedure
CUI: C0200637
Disease: Monocyte count procedure
296 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Monocyte count result
CUI: C0750880
Disease: Monocyte count result
296 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Neutrophil count (procedure)
CUI: C0200633
Disease: Neutrophil count (procedure)
234 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Platelet Count measurement
CUI: C0032181
Disease: Platelet Count measurement
457 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Platelet mean volume determination (procedure)
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
371 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Red Blood Cell Count measurement
CUI: C0014772
Disease: Red Blood Cell Count measurement
1599 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Uric acid measurement (procedure)
CUI: C0202239
Disease: Uric acid measurement (procedure)
1463 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
White Blood Cell Count procedure
CUI: C0023508
Disease: White Blood Cell Count procedure
1322 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.700 1.000 1 2019 2019
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
50 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2016 2016
Chronic Kidney Diseases
CUI: C1561643
Disease: Chronic Kidney Diseases
306 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2017 2017
Neonatal chlamydial conjunctivitis
CUI: C0343723
Disease: Neonatal chlamydial conjunctivitis
3 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2010 2010
Pain
CUI: C0030193
Disease: Pain
196 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2011 2011
Sickle Cell-SS Disease
CUI: C4321477
Disease: Sickle Cell-SS Disease
2 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2017 2017
Thalassemia
CUI: C0039730
Disease: Thalassemia
18 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2007 2007
Trachoma
CUI: C0040592
Disease: Trachoma
3 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2010 2010