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 | 0.080 | 11 | 46726563 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 46728746 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
0.925 | 0.080 | 11 | 46728138 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 46739341 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.925 | 0.080 | 11 | 46728004 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 11 | 46728157 | missense variant | G/A | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 46726734 | missense variant | G/A | snv | 4.9E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 46726761 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.080 | 11 | 46728139 | missense variant | G/A | snv | 4.1E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 46739324 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.700 | 0 | |||||||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 46723421 | frameshift variant | -/T | ins | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 11 | 46739326 | missense variant | G/A;T | snv |
|
0.700 | 0 | ||||||||||||
|
1.000 | 0.080 | 11 | 46725897 | missense variant | G/A | snv | 1.1E-03 | 1.4E-03 |
|
0.700 | 0 | ||||||||||
|
0.925 | 0.080 | 11 | 46726563 | missense variant | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | |||||||
|
0.925 | 0.080 | 11 | 46728746 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||
|
0.925 | 0.080 | 11 | 46728138 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
0.925 | 0.080 | 11 | 46739341 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
0.925 | 0.080 | 11 | 46728004 | missense variant | T/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 46728157 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||||
|
1.000 | 0.080 | 11 | 46725897 | missense variant | G/A | snv | 1.1E-03 | 1.4E-03 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | ||||||
|
1.000 | 0.080 | 11 | 46726564 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases | 0.700 | 1.000 | 12 | 1983 | 2004 | |||||||
|
0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 |
|
0.700 | 1.000 | 14 | 1986 | 2013 |