WAS, WASP actin nucleation promoting factor, 7454
N. diseases: 204; N. variants: 37
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.120 | X | 48684284 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.810 | 1.000 | 6 | 1995 | 2017 | ||||||||
|
0.882 | 0.120 | X | 48684373 | missense variant | G/A | snv | 5.5E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.800 | 1.000 | 17 | 1995 | 2017 | |||||||
|
0.882 | 0.120 | X | 48683944 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 10 | 1995 | 2017 | ||||||||
|
0.882 | 0.120 | X | 48684407 | missense variant | G/A;C;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 9 | 1997 | 2013 | ||||||||
|
1.000 | 0.080 | X | 48685786 | missense variant | G/A;C | snv | 4.5E-04 | 7.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 6 | 1999 | 2013 | ||||||
|
0.882 | 0.120 | X | 48688689 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 6 | 1995 | 2015 | ||||||||
|
0.925 | 0.080 | X | 48684323 | missense variant | C/A;G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1995 | 2002 | ||||||||
|
0.925 | 0.080 | X | 48689423 | missense variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 5 | 1995 | 2002 | ||||||||
|
0.882 | 0.120 | X | 48686957 | splice donor variant | T/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 2004 | 2015 | ||||||||
|
0.882 | 0.120 | X | 48688724 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 2 | 1996 | 2002 | ||||||||
|
0.882 | 0.120 | X | 48688097 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 48684317 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | X | 48686928 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | X | 48684421 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.120 | X | 48689359 | missense variant | C/T | snv | 3.4E-03 | 1.5E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
0.925 | 0.120 | X | 48688723 | missense variant | T/C | snv | 4.8E-03 | 4.9E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.010 | 1.000 | 1 | 2013 | 2013 |