VWF, von Willebrand factor, 7450

N. diseases: 498; N. variants: 158
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs41276738
rs41276738
0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.810 1.000 1 2004 2004
dbSNP: rs61749384
rs61749384
0.882 0.080 12 6019502 missense variant G/A snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1991 2019
dbSNP: rs61749397
rs61749397
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1991 2019
dbSNP: rs61750072
rs61750072
0.925 0.080 12 6019297 missense variant C/A;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 21 1991 2019
dbSNP: rs61749370
rs61749370
0.882 0.080 12 6019621 missense variant G/A;T snv 8.0E-04; 2.8E-04
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 20 1991 2012
dbSNP: rs61749387
rs61749387
0.882 0.080 12 6019496 missense variant G/A snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 21 1991 2013
dbSNP: rs121964894
rs121964894
0.925 0.080 12 6036488 missense variant G/A snv 6.4E-05 4.2E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs267607342
rs267607342
1.000 0.080 12 6018799 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs372028373
rs372028373
1.000 0.080 12 6019466 missense variant C/A;T snv 7.2E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61748476
rs61748476
1.000 0.080 12 6044370 missense variant C/T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61748477
rs61748477
0.925 0.080 12 6044361 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61748497
rs61748497
0.851 0.080 12 6025624 missense variant A/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749371
rs61749371
1.000 0.080 12 6019616 missense variant G/A;C;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749372
rs61749372
0.925 0.080 12 6019604 missense variant A/C;G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749392
rs61749392
0.925 0.080 12 6019479 missense variant C/G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749393
rs61749393
0.925 0.080 12 6019478 missense variant C/A;G snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749398
rs61749398
0.925 0.080 12 6019448 missense variant C/T snv 8.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61749403
rs61749403
0.882 0.080 12 6019396 missense variant C/A;G;T snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750071
rs61750071
0.882 0.080 12 6019298 missense variant G/A;T snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750088
rs61750088
1.000 0.080 12 6019040 missense variant G/A;C snv 1.6E-05
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750089
rs61750089
1.000 0.080 12 6019036 missense variant G/A;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750101
rs61750101
0.925 0.080 12 6018877 missense variant A/C snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750117
rs61750117
0.882 0.080 12 6018629 missense variant G/A;C;T snv 4.0E-06
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750577
rs61750577
0.925 0.080 12 6018628 missense variant C/A;T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012
dbSNP: rs61750579
rs61750579
0.925 0.080 12 6018598 missense variant A/T snv
CUI: C1264040
Disease: von Willebrand Disease, Type 2
von Willebrand Disease, Type 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 20 1991 2012