rs61749397, VWF

N. diseases: 9
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.
von Willebrand Disease, Type 2
CUI: C1264040
Disease: von Willebrand Disease, Type 2
39 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.800 1.000 21 1991 2019
von Willebrand Disease, Type 2B
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
12 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.770 0.857 7 2001 2019
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
78 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.740 1.000 5 2010 2019
Thrombocytopenia
CUI: C0040034
Disease: Thrombocytopenia
110 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.030 1.000 3 2010 2017
Blood Coagulation Disorders
CUI: C0005779
Disease: Blood Coagulation Disorders
31 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.020 1.000 2 2013 2018
Blood Platelet Disorders
CUI: C0005818
Disease: Blood Platelet Disorders
5 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.020 1.000 2 2013 2017
Qualitative platelet deficiency
CUI: C0235604
Disease: Qualitative platelet deficiency
1 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.020 1.000 2 2013 2017
Macrothrombocytopenia
CUI: C2751260
Disease: Macrothrombocytopenia
31 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2016 2016
Montreal platelet syndrome
CUI: C0398642
Disease: Montreal platelet syndrome
1 0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2009 2009