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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.040 | 9 | 132937614 | intron variant | C/T | snv | 0.25 |
|
Neoplasms | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.040 | 9 | 132937614 | intron variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.882 | 0.040 | 9 | 132937614 | intron variant | C/T | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.851 | 0.200 | 9 | 132903785 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 10 | 1997 | 2015 | ||||||||
|
0.851 | 0.200 | 9 | 132903785 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 9 | 1997 | 2017 | ||||||||
|
0.882 | 0.160 | 9 | 132902640 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 9 | 1997 | 2006 | ||||||||
|
0.851 | 0.200 | 9 | 132906053 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 8 | 1997 | 2015 | ||||||||
|
0.882 | 0.200 | 9 | 132921418 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 6 | 1998 | 2005 | ||||||||
|
1.000 | 0.120 | 9 | 132905618 | stop gained | G/A;C;T | snv | 8.5E-04; 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.800 | 1.000 | 6 | 1998 | 2017 | |||||||
|
0.925 | 0.120 | 9 | 132921367 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 5 | 1998 | 2016 | ||||||||
|
0.925 | 0.120 | 9 | 132921367 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 5 | 1998 | 2017 | ||||||||
|
1.000 | 0.120 | 9 | 132906080 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 4 | 1999 | 2015 | ||||||||
|
0.925 | 0.120 | 9 | 132921367 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 3 | 1998 | 2017 | ||||||||
|
0.882 | 0.160 | 9 | 132902640 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 1997 | 2006 | ||||||||
|
1.000 | 0.120 | 9 | 132897544 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 2 | 1998 | 2002 | ||||||||
|
1.000 | 0.120 | 9 | 132900816 | stop gained | G/A;C | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2013 | 2016 | |||||||
|
1.000 | 0.120 | 9 | 132912329 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2008 | ||||||||
|
1.000 | 0.120 | 9 | 132897538 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 2 | 2005 | 2010 | ||||||||
|
1.000 | 0.120 | 9 | 132911509 | stop gained | G/A;C | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||||
|
1.000 | 0.120 | 9 | 132911103 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 9 | 132906053 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.120 | 9 | 132903728 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.160 | 9 | 132902703 | stop gained | G/A | snv |
|
Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
0.925 | 0.160 | 9 | 132902703 | stop gained | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.120 | 9 | 132900833 | stop gained | G/C | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases | 0.700 | 1.000 | 1 | 1997 | 1997 |