rs146249964, MPL

N. diseases: 5
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 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 1.000 5 1994 2014
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 1.000 2 1994 2001
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 1.000 1 2019 2019
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 0
THROMBOCYTHEMIA 2
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
4 0.851 0.080 1 43337929 splice donor variant T/A snv 4.0E-04 1.7E-04 0.700 0