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 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
20 | 59318198 | intron variant | A/T | snv | 1.4E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 20 | 59300861 | missense variant | G/A;T | snv | 3.3E-03; 2.9E-05 |
|
0.700 | 0 | ||||||||||||
|
1.000 | 20 | 59324412 | missense variant | G/A | snv | 3.9E-04 | 1.6E-03 |
|
0.700 | 0 | |||||||||||
|
1.000 | 20 | 59301614 | frameshift variant | -/G | delins |
|
0.700 | 0 | |||||||||||||
|
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 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 20 | 59301689 | missense variant | G/A;T | snv | 4.0E-06 |
|
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases | 0.700 | 0 | ||||||||||
|
1.000 | 0.080 | 20 | 59301689 | missense variant | G/A;T | snv | 4.0E-06 |
|
Skin and Connective Tissue 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 | 59301689 | missense variant | G/A;T | snv | 4.0E-06 |
|
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 | |||||||||||
|
1.000 | 0.080 | 20 | 59324430 | missense variant | C/A;G;T | snv | 2.0E-05; 3.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||||
|
1.000 | 0.080 | 20 | 59301574 | missense variant | G/A | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases | 0.010 | 1.000 | 1 | 2001 | 2001 |