rs750046020, MPL

N. diseases: 6
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 0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 0.700 1.000 2 2009 2015
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 0.700 1.000 2 2009 2015
THROMBOCYTHEMIA 2
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
4 0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 0.700 0
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
12 0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 0.030 1.000 3 2009 2018
Cerebrovascular accident
CUI: C0038454
Disease: Cerebrovascular accident
591 0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 0.010 1.000 1 2018 2018
Familial thrombocytosis
CUI: C4303761
Disease: Familial thrombocytosis
5 0.827 0.080 1 43338646 missense variant C/G;T snv 8.0E-06; 8.0E-05 0.010 1.000 1 2009 2009