rs121913614, MPL

N. diseases: 7
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.
THROMBOCYTHEMIA 2
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
4 0.790 0.120 1 43349308 missense variant G/A snv 0.800 1.000 4 2004 2015
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.790 0.120 1 43349308 missense variant G/A snv 0.730 1.000 5 2008 2020
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.790 0.120 1 43349308 missense variant G/A snv 0.710 1.000 4 2008 2013
THROMBOCYTHEMIA 1
CUI: C3277671
Disease: THROMBOCYTHEMIA 1
4 0.790 0.120 1 43349308 missense variant G/A snv 0.700 1.000 4 2008 2010
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.790 0.120 1 43349308 missense variant G/A snv 0.030 1.000 3 2010 2020
Familial thrombocytosis
CUI: C4303761
Disease: Familial thrombocytosis
5 0.790 0.120 1 43349308 missense variant G/A snv 0.020 1.000 2 2009 2010
Myelofibrosis
CUI: C0026987
Disease: Myelofibrosis
7 0.790 0.120 1 43349308 missense variant G/A snv 0.010 1.000 1 2010 2010