rs121964895, VWF

N. diseases: 7
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
CUI: C0042974
Disease: von Willebrand Disease
78 0.851 0.080 12 6021960 missense variant C/A;T snv 0.750 1.000 6 2006 2019
von Willebrand Disease, Type 1
CUI: C1264039
Disease: von Willebrand Disease, Type 1
26 0.851 0.080 12 6021960 missense variant C/A;T snv 0.720 1.000 2 2009 2009
Reduced quantity of Von Willebrand factor
CUI: C4023022
Disease: Reduced quantity of Von Willebrand factor
1 0.851 0.080 12 6021960 missense variant C/A;T snv 0.700 0
Reduced von Willebrand factor activity
CUI: C4024701
Disease: Reduced von Willebrand factor activity
1 0.851 0.080 12 6021960 missense variant C/A;T snv 0.700 0
VON WILLEBRAND FACTOR VICENZA PHENOTYPE
CUI: C4017650
Disease: VON WILLEBRAND FACTOR VICENZA PHENOTYPE
1 0.851 0.080 12 6021960 missense variant C/A;T snv 0.700 0
von Willebrand disease type 2M
CUI: C1282974
Disease: von Willebrand disease type 2M
5 0.851 0.080 12 6021960 missense variant C/A;T snv 0.020 1.000 2 2000 2006
Von willebrand factor, deficiency
CUI: C2930849
Disease: Von willebrand factor, deficiency
2 0.851 0.080 12 6021960 missense variant C/A;T snv 0.010 1.000 1 2006 2006