Source: BEFREE

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
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: 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: C0017925
Disease: Glycogen Storage Disease Type VI
Glycogen Storage Disease Type VI
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: 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: 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: 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: C0596263
Disease: Carcinogenesis
Carcinogenesis
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: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia
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: C0027831
Disease: Neurofibromatosis 1
Neurofibromatosis 1
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: C0432412
Disease: Chromosome 8, trisomy
Chromosome 8, trisomy
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: C0014457
Disease: Eosinophilia
Eosinophilia
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
Myelodysplastic/myeloproliferative neoplasm, unclassifiable
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: C0009812
Disease: Constitutional Symptom
Constitutional Symptom
0.010 1.000 1 2013 2013
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: C4520840
Disease: Erythroleukemia
Erythroleukemia
0.010 1.000 1 2018 2018
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: C0024299
Disease: Lymphoma
Lymphoma
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: C0410000
Disease: Overlap syndrome
Overlap syndrome
0.010 1.000 1 2013 2013
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
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: 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: C0020538
Disease: Hypertensive disease
Hypertensive disease
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: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation
0.010 1.000 1 2011 2011
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1802398
Disease: Chromosome 5, trisomy 5q
Chromosome 5, trisomy 5q
0.010 1.000 1 2010 2010