rs121913615, MPL

N. diseases: 25
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.
Myelofibrosis
CUI: C0026987
Disease: Myelofibrosis
7 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.870 0.875 8 2006 2016
THROMBOCYTHEMIA 2
CUI: C3275998
Disease: THROMBOCYTHEMIA 2
4 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.700 1.000 4 2004 2015
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
60 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.700 1.000 1 2006 2006
Congenital amegakaryocytic thrombocytopenia
25 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.700 0
THROMBOCYTHEMIA 2, SOMATIC
CUI: C3277190
Disease: THROMBOCYTHEMIA 2, SOMATIC
1 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.700 0
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
29 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.100 0.929 14 2006 2020
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
47 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.100 1.000 10 2008 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
37 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.100 1.000 10 2007 2020
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
43 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.070 1.000 7 2008 2019
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
38 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.030 1.000 3 2008 2010
Acute lymphocytic leukemia
CUI: C0023449
Disease: Acute lymphocytic leukemia
222 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
Adult Myelodysplastic Syndrome
CUI: C3900098
Disease: Adult Myelodysplastic Syndrome
20 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
Anemia
CUI: C0002871
Disease: Anemia
94 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2007 2007
Childhood Myelodysplastic Syndrome
CUI: C2347761
Disease: Childhood Myelodysplastic Syndrome
20 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
Down Syndrome
CUI: C0013080
Disease: Down Syndrome
80 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2009 2009
Familial thrombocytosis
CUI: C4303761
Disease: Familial thrombocytosis
5 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2009 2009
leukemia
CUI: C0023418
Disease: leukemia
144 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2009 2009
Lymphoid leukemia
CUI: C0023448
Disease: Lymphoid leukemia
4 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
1641 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2016 2016
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
95 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
115 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2008 2008
Neoplasms
CUI: C0027651
Disease: Neoplasms
1644 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2009 2009
Precursor Cell Lymphoblastic Leukemia Lymphoma
168 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2015 2015
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
1374 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2016 2016
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
12 0.683 0.240 1 43349338 missense variant G/C;T snv 8.0E-06 0.010 1.000 1 2016 2016