JAG1, jagged canonical Notch ligand 1, 182
N. diseases: 420; N. variants: 63
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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 20 | 10672709 | missense variant | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10641825 | frameshift variant | CA/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10658468 | frameshift variant | CT/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10652205 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
0.882 | 0.120 | 20 | 10643851 | frameshift variant | G/- | del |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10648024 | frameshift variant | G/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10658612 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.800 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10672721 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10642587 | stop gained | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1998 | 2015 | |||||||
|
0.925 | 0.120 | 20 | 10643807 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||
|
1.000 | 0.120 | 20 | 10652548 | missense variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10652227 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10652513 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10663963 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10656450 | stop gained | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 3 | 1998 | 2015 | |||||||
|
1.000 | 0.120 | 20 | 10641155 | stop gained | G/A;T | snv | 2.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 2 | 1999 | 2015 | |||||||
|
1.000 | 0.120 | 20 | 10643818 | stop gained | G/A;T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.120 | 20 | 10672702 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10658674 | missense variant | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 1.000 | 14 | 1997 | 2013 | ||||||||
|
1.000 | 0.120 | 20 | 10641532 | stop gained | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10641536 | frameshift variant | T/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10648670 | frameshift variant | TGA/G | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.120 | 20 | 10645369 | frameshift variant | TTTCC/- | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Cardiovascular Diseases | 0.700 | 0 |