rs35152987, HBD

N. diseases: 4
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.
Hemoglobin A2 measurement
CUI: C0474543
Disease: Hemoglobin A2 measurement
5 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.700 1.000 1 2015 2015
Hemoglobin measurement
CUI: C0518015
Disease: Hemoglobin measurement
224 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.700 1.000 1 2015 2015
delta-Thalassemia
CUI: C0271990
Disease: delta-Thalassemia
7 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.700 0
Beta thalassemia trait
CUI: C0878521
Disease: Beta thalassemia trait
5 0.925 0.080 11 5234352 missense variant C/A;T snv 2.2E-03 0.010 1.000 1 2019 2019