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.
Polycythemia Vera
CUI: C0032463
Disease: Polycythemia Vera
22 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.900 0.941 237 2005 2018
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
215 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.900 0.947 27 2005 2016
Myeloproliferative disease
CUI: C0027022
Disease: Myeloproliferative disease
23 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.800 0.969 159 2005 2018
Primary Myelofibrosis
CUI: C0001815
Disease: Primary Myelofibrosis
20 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.800 0.987 155 2005 2017
THROMBOCYTHEMIA 3
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
1 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.800 1 2012 2012
Myeloid Leukemia, Chronic
CUI: C0023473
Disease: Myeloid Leukemia, Chronic
64 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.770 1.000 8 2005 2017
Budd-Chiari Syndrome
CUI: C0856761
Disease: Budd-Chiari Syndrome
1 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.760 1.000 9 2006 2016
Subacute lymphoid leukemia
CUI: C0152271
Disease: Subacute lymphoid leukemia
1 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.700 1 2005 2005
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
9 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.700 0
Chronic myeloproliferative disorder
CUI: C1292778
Disease: Chronic myeloproliferative disorder
22 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.100 0.965 144 2005 2018
Thrombocythemia, Essential
CUI: C0040028
Disease: Thrombocythemia, Essential
18 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.100 0.975 118 2005 2018
Myelofibrosis
CUI: C0026987
Disease: Myelofibrosis
5 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.100 1.000 40 2005 2017
Thrombocytosis
CUI: C0836924
Disease: Thrombocytosis
3 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.100 0.929 14 2006 2014
MYELODYSPLASTIC SYNDROME
CUI: C3463824
Disease: MYELODYSPLASTIC SYNDROME
53 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.090 0.889 9 2005 2013
leukemia
CUI: C0023418
Disease: leukemia
76 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.070 0.714 7 2005 2015
Neoplasm, Residual
CUI: C0242596
Disease: Neoplasm, Residual
4 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.070 1.000 7 2007 2016
Acute Erythroblastic Leukemia
CUI: C0023440
Disease: Acute Erythroblastic Leukemia
4 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.060 1.000 6 2006 2018
Thrombophilia
CUI: C0398623
Disease: Thrombophilia
6 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.050 1.000 5 2007 2014
Anemia
CUI: C0002871
Disease: Anemia
44 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.040 1.000 4 2006 2010
Myelofibrosis due to another disorder
1 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.040 0.500 4 2006 2010
Polycythemia
CUI: C0032461
Disease: Polycythemia
17 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.040 1.000 4 2006 2012
CAMPOMELIC DYSPLASIA
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
12 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.030 1.000 3 2007 2008
Chronic Neutrophilic Leukemia
CUI: C0023481
Disease: Chronic Neutrophilic Leukemia
4 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.030 1.000 3 2005 2007
Coronary Microvascular Disease
CUI: C2827469
Disease: Coronary Microvascular Disease
2 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.030 1.000 3 2007 2008
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
8 0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04 0.030 1.000 3 2007 2008