rs17292650, MPL

N. diseases: 3
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.
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
12 0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 0.020 1.000 2 2004 2013
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2004 2004
Congenital amegakaryocytic thrombocytopenia
CUI: C1327915
Disease: Congenital amegakaryocytic thrombocytopenia
25 0.882 0.120 1 43338136 missense variant G/T snv 3.5E-03 1.4E-02 0.010 1.000 1 2017 2017