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: rs61748511
rs61748511
0.925 0.080 12 6022833 missense variant A/G snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.830 1.000 4 2000 2009
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: rs61750630
rs61750630
0.925 0.080 12 5981988 missense variant C/A snv
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 3 1994 2000
dbSNP: rs61749397
rs61749397
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.770 0.857 7 2001 2019
dbSNP: rs121964895
rs121964895
0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.750 1.000 6 2006 2019
dbSNP: rs61749397
rs61749397
0.807 0.080 12 6019472 missense variant C/G;T snv 4.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.740 1.000 5 2010 2019
dbSNP: rs41276738
rs41276738
0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C1282975
Disease: von Willebrand Disease, Type 2N
von Willebrand Disease, Type 2N
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.730 1.000 3 2006 2018
dbSNP: rs61750117
rs61750117
0.882 0.080 12 6018629 missense variant G/A;C;T snv 4.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 3 1996 2019
dbSNP: rs121964895
rs121964895
0.851 0.080 12 6021960 missense variant C/A;T snv
CUI: C1264039
Disease: von Willebrand Disease, Type 1
von Willebrand Disease, Type 1
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2009 2009
dbSNP: rs61749370
rs61749370
0.882 0.080 12 6019621 missense variant G/A;T snv 8.0E-04; 2.8E-04
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2016 2017
dbSNP: rs61749384
rs61749384
0.882 0.080 12 6019502 missense variant G/A snv
CUI: C1282971
Disease: von Willebrand Disease, Type 2B
von Willebrand Disease, Type 2B
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2003 2010
dbSNP: rs61750595
rs61750595
0.882 0.080 12 6018443 stop gained G/A;T snv 5.6E-05
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.720 1.000 2 2010 2013
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: rs41276738
rs41276738
0.807 0.080 12 6034812 missense variant C/T snv 3.4E-03 3.7E-03
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 16 1991 2019
dbSNP: rs61750074
rs61750074
0.925 0.080 12 6019283 missense variant G/A snv 2.0E-05 7.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 6 2001 2016
dbSNP: rs61751305
rs61751305
1.000 0.080 12 5949823 missense variant C/T snv 8.0E-06
CUI: C1264041
Disease: von Willebrand Disease, Type 3
von Willebrand Disease, Type 3
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 4 1994 2004
dbSNP: rs267607328
rs267607328
0.925 0.080 12 6022811 missense variant G/A snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 2 2002 2019
dbSNP: rs61749387
rs61749387
0.882 0.080 12 6019496 missense variant G/A snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 2 1996 2019
dbSNP: rs61749395
rs61749395
1.000 0.080 12 6019475 missense variant G/A snv
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 2 2001 2019
dbSNP: rs61750070
rs61750070
0.882 0.080 12 6019303 missense variant A/C snv 3.2E-05 3.5E-05
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 2 2007 2019
dbSNP: rs61750071
rs61750071
0.882 0.080 12 6019298 missense variant G/A;T snv 4.0E-06
CUI: C0042974
Disease: von Willebrand Disease
von Willebrand Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.710 1.000 2 2005 2019