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 | 1 | 25804968 | intron variant | G/A;C | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 25804530 | intron variant | T/C | snv | 0.23 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.080 | 1 | 25808435 | intron variant | C/A;G | snv |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.080 | 1 | 25799343 | upstream gene variant | C/G | snv | 0.54 |
|
Digestive System Diseases; Neoplasms | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1.000 | 0.120 | 1 | 25811462 | missense variant | A/G;T | snv | 4.0E-06; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2001 | 2009 | |||||||
|
1.000 | 0.120 | 1 | 25809688 | missense variant | A/G | snv | 8.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 6 | 2001 | 2009 | |||||||
|
1.000 | 0.120 | 1 | 25808753 | frameshift variant | -/A | delins |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 4 | 2002 | 2017 | ||||||||
|
1.000 | 0.120 | 1 | 25800232 | start lost | T/A;C;G | snv | 7.4E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||||
|
1.000 | 0.120 | 1 | 25800231 | start lost | A/G | snv | 4.5E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 3 | 2002 | 2013 | |||||||
|
1.000 | 0.120 | 1 | 25802115 | splice donor variant | GAGT/- | delins | 1.1E-04 | 3.2E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
0.742 | 0.360 | 1 | 25809150 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1.000 | 0.120 | 1 | 25812720 | stop gained | C/G;T | snv | 2.8E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Respiratory Tract Diseases; Cardiovascular Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases; Otorhinolaryngologic Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Musculoskeletal Diseases; Nervous System Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
0.700 | 0 | |||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications | 0.700 | 0 | ||||||||||
|
0.742 | 0.360 | 1 | 25809753 | missense variant | G/A;C | snv | 1.8E-04 |
|
Pathological Conditions, Signs and Symptoms; Digestive System Diseases | 0.700 | 0 |