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: C0221013
Disease: Mastocytosis, Systemic
Mastocytosis, Systemic
0.030 0.667 3 2005 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0027013
Disease: Myeloid Metaplasia
Myeloid Metaplasia
0.030 1.000 3 2006 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0018939
Disease: Hematological Disease
Hematological Disease
0.030 1.000 3 2006 2016
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
CAMPOMELIC DYSPLASIA
0.030 1.000 3 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0039240
Disease: Supraventricular tachycardia
Supraventricular tachycardia
0.030 1.000 3 2007 2014
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins
0.030 1.000 3 2007 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0019154
Disease: Hepatic Vein Thrombosis
Hepatic Vein Thrombosis
0.030 1.000 3 2006 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C1318533
Disease: Secondary polycythemia
Secondary polycythemia
0.030 1.000 3 2005 2006
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT
0.030 1.000 3 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C3665444
Disease: Neutrophilia (disorder)
Neutrophilia (disorder)
0.020 1.000 2 2008 2010
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
0.020 1.000 2 2013 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C4022560
Disease: Splanchnic vein thrombosis
Splanchnic vein thrombosis
0.020 1.000 2 2007 2018
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0085669
Disease: Acute leukemia
Acute leukemia
0.020 0.500 2 2005 2013
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 1.000 2 2013 2015
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
Refractory anemia with ring sideroblasts associated with marked thrombocytosis
0.020 1.000 2 2009 2013
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
Idiopathic Hypereosinophilic Syndrome
0.020 1.000 2 2005 2007
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
Extramedullary Hematopoiesis (disorder)
0.020 1.000 2 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0155773
Disease: Portal vein thrombosis
Portal vein thrombosis
0.020 1.000 2 2007 2008
dbSNP: rs77375493
rs77375493
0.504 0.536 9 5073770 missense variant G/A,T snp 3.5E-04 2.9E-04
CUI: C0023462
Disease: Acute Megakaryocytic Leukemias
Acute Megakaryocytic Leukemias
0.020 1.000 2 2005 2006
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
Idiopathic pulmonary arterial hypertension
0.010 1.000 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: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia
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
Disseminated eosinophilic collagen disease
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: C0740302
Disease: 5q-syndrome
5q-syndrome
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
Pdgfra-Associated Chronic Eosinophilic Leukemia
0.010 1.000 1 2007 2007