rs587778514, MPL

N. diseases: 2
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.
Congenital amegakaryocytic thrombocytopenia
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
25 0.925 0.080 1 43338564 frameshift variant CT/- del 5.2E-05 4.9E-05 0.700 1.000 4 2001 2016
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.925 0.080 1 43338564 frameshift variant CT/- del 5.2E-05 4.9E-05 0.700 1.000 2 2001 2007