rs28928907, MPL

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.
Congenital amegakaryocytic thrombocytopenia
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
25 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.800 1.000 10 2000 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.700 1.000 8 2000 2018
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.700 1.000 1 2019 2019
Congenital thrombocytopenia
CUI: C0272278
Disease: Congenital thrombocytopenia
3 0.882 0.160 1 43338634 missense variant G/A;C snv 8.0E-06; 3.8E-04 0.010 1.000 1 2019 2019