rs41276738, 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, Type 2
CUI: C1264040
Disease: von Willebrand Disease, Type 2
39 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.810 1.000 1 2004 2004
von Willebrand Disease, Type 2N
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
11 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.730 1.000 3 2006 2018
von Willebrand Disease
CUI: C0042974
Disease: von Willebrand Disease
78 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.710 1.000 16 1991 2019
von Willebrand Disease, Type 1
CUI: C1264039
Disease: von Willebrand Disease, Type 1
26 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.710 1.000 1 2013 2013
Abnormality of coagulation
CUI: C1846821
Disease: Abnormality of coagulation
15 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.700 1.000 1 2019 2019
von Willebrand Disease, Recessive Form
CUI: C1848525
Disease: von Willebrand Disease, Recessive Form
4 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.700 0
von Willebrand Disease, Type 2B
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
12 0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03 0.010 1.000 1 2017 2017