rs334, HBB

N. diseases: 11
Source: BEFREE ×
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.
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
68 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.850 1.000 5 1957 2018
Malaria
CUI: C0024530
Disease: Malaria
90 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.810 1.000 1 2009 2018
Sickle Cell Trait
CUI: C0037054
Disease: Sickle Cell Trait
16 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.030 1.000 3 2010 2016
Anemia
CUI: C0002871
Disease: Anemia
79 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.020 1.000 2 2012 2013
Cardiac Arrest
CUI: C0018790
Disease: Cardiac Arrest
47 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
155 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
182 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