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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.807 | 0.080 | 12 | 6034812 | missense variant | C/T | snv | 3.4E-03 | 3.7E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.882 | 0.080 | 12 | 6019621 | missense variant | G/A;T | snv | 8.0E-04; 2.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.720 | 1.000 | 2 | 2016 | 2017 | |||||||
|
0.925 | 0.080 | 12 | 6018404 | missense variant | C/T | snv | 4.1E-04 | 1.7E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||||
|
0.882 | 0.080 | 12 | 6019303 | missense variant | A/C | snv | 3.2E-05 | 3.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1.000 | 0.080 | 12 | 6019408 | missense variant | G/A;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.882 | 0.080 | 12 | 6019396 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.807 | 0.080 | 12 | 6019472 | missense variant | C/G;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.770 | 0.857 | 7 | 2001 | 2019 | |||||||
|
0.882 | 0.080 | 12 | 6019502 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.720 | 1.000 | 2 | 2003 | 2010 | ||||||||
|
0.925 | 0.080 | 12 | 6019501 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 12 | 6019496 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 12 | 6019479 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 12 | 6019478 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 |