rs33971440, HBB

N. diseases: 10
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
CUI: C0005283
Disease: beta Thalassemia
103 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 1.000 10 1983 2015
alpha-Thalassemia
CUI: C0002312
Disease: alpha-Thalassemia
37 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
Anemia, Sickle Cell
CUI: C0002895
Disease: Anemia, Sickle Cell
138 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
Beta Thalassemia, Dominant Inclusion Body Type
CUI: C1858990
Disease: Beta Thalassemia, Dominant Inclusion Body Type
14 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
beta^0^ Thalassemia
CUI: C0271980
Disease: beta^0^ Thalassemia
49 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
ERYTHROCYTOSIS, FAMILIAL, 6
CUI: C4693822
Disease: ERYTHROCYTOSIS, FAMILIAL, 6
39 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
CUI: C1841621
Disease: FETAL HEMOGLOBIN QUANTITATIVE TRAIT LOCUS 1
20 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
Heinz Body Anemias
CUI: C0700299
Disease: Heinz Body Anemias
19 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
MALARIA, SUSCEPTIBILITY TO (finding)
CUI: C1970028
Disease: MALARIA, SUSCEPTIBILITY TO (finding)
23 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0
METHEMOGLOBINEMIA, BETA TYPE
CUI: C4693797
Disease: METHEMOGLOBINEMIA, BETA TYPE
13 0.763 0.080 11 5226929 splice donor variant C/A;T snv 7.2E-05; 9.5E-05 0.700 0