EDN3, endothelin 3, 1908
N. diseases: 107; N. variants: 16
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 | 0.080 | 20 | 59321127 | missense variant | G/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.800 | 1.000 | 3 | 1996 | 2002 | ||||||||
|
1.000 | 0.080 | 20 | 59321031 | missense variant | A/G | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 3 | 1996 | 2002 | |||||||
|
1.000 | 0.080 | 20 | 59301650 | missense variant | C/A | snv | 2.0E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 1.000 | 2 | 2010 | 2016 | |||||||
|
1.000 | 0.080 | 20 | 59301619 | frameshift variant | GC/T | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 20 | 59301692 | missense variant | A/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 20 | 59301634 | missense variant | C/G | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 20 | 59321158 | stop gained | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 20 | 59301689 | missense variant | G/A;T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 20 | 59301691 | missense variant | C/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.700 | 0 |