Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
LEUKEMIA, ACUTE MYELOID, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C3281125
Disease: THROMBOCYTHEMIA 3
THROMBOCYTHEMIA 3
0.800 1 2012 2012
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0152271
Disease: Subacute lymphoid leukemia
Subacute lymphoid leukemia
0.700 1 2005 2005
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1282609
Disease: Granulocytosis
Granulocytosis
0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases
0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0025167
Disease: Megakaryocytic hyperplasia
Megakaryocytic hyperplasia
0.010 1.000 1 2009 2009
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0040100
Disease: Thymoma
Thymoma
0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023882
Disease: Little's Disease
Little's Disease
0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0598766
Disease: Leukemogenesis
Leukemogenesis
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0024899
Disease: Mastocytosis
Mastocytosis
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0600502
Disease: Vascular Hemostatic Disorders
Vascular Hemostatic Disorders
0.010 < 0.001 1 2015 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023518
Disease: Leukocytosis
Leukocytosis
0.010 < 0.001 1 2017 2017
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0152276
Disease: Granulocytic Sarcoma
Granulocytic Sarcoma
0.010 1.000 1 2012 2012
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease
0.010 1.000 1 2006 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
Myelodysplastic Syndrome with Isolated del(5q)
0.010 1.000 1 2010 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0152264
Disease: Familial erythrocytosis
Familial erythrocytosis
0.010 1.000 1 2008 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0740992
Disease: anemia hemoglobin
anemia hemoglobin
0.010 1.000 1 2016 2016
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases
0.010 1.000 1 2015 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1540912
Disease: Hypereosinophilic syndrome
Hypereosinophilic syndrome
0.010 1.000 1 2007 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0036690
Disease: Septicemia
Septicemia
0.010 1.000 1 2005 2005
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0178874
Disease: Tumor Progression
Tumor Progression
0.010 1.000 1 2014 2014
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
Precursor Cell Lymphoblastic Leukemia Lymphoma
0.010 1.000 1 2010 2010