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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 |
|
Neoplasms; Eye Diseases | 0.800 | 1.000 | 26 | 1989 | 2017 | |||||||
|
1.000 | 0.080 | 13 | 48452997 | missense variant | C/T | snv |
|
Neoplasms; Eye Diseases | 0.800 | 1.000 | 19 | 1989 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48463758 | missense variant | T/C | snv |
|
Neoplasms; Eye Diseases | 0.800 | 1.000 | 13 | 1989 | 2001 | ||||||||
|
1.000 | 0.040 | 13 | 48411859 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||
|
1.000 | 0.040 | 13 | 48412236 | missense variant | T/A;C | snv |
|
Skin and Connective Tissue Diseases | 0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 13 | 48379624 | stop gained | C/T | snv | 7.0E-06 |
|
Neoplasms; Eye Diseases | 0.710 | 1.000 | 7 | 1996 | 2016 | |||||||
|
1.000 | 0.080 | 13 | 48456207 | stop gained | T/A | snv |
|
Neoplasms; Eye Diseases | 0.710 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.080 | 13 | 48456349 | missense variant | G/A;C | snv |
|
Neoplasms; Eye Diseases | 0.710 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.080 | 13 | 48364961 | missense variant | G/A | snv | 3.7E-04 | 2.8E-04 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 19 | 1989 | 2017 | ||||||
|
1.000 | 0.080 | 13 | 48368550 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 19 | 1989 | 2017 | ||||||
|
0.851 | 0.200 | 13 | 48373493 | splice donor variant | G/A | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 11 | 1997 | 2008 | ||||||||
|
1.000 | 0.080 | 13 | 48362847 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 10 | 1994 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48379594 | stop gained | C/T | snv | 4.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 1989 | 2017 | |||||||
|
0.925 | 0.200 | 13 | 48349024 | splice donor variant | G/A;T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 1995 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48362859 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 10 | 1994 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48368549 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 1995 | 2015 | ||||||||
|
1.000 | 0.080 | 13 | 48379624 | stop gained | C/T | snv | 7.0E-06 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 9 | 1996 | 2018 | |||||||
|
1.000 | 0.080 | 13 | 48367512 | stop gained | C/G;T | snv | 1.2E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1994 | 2017 | |||||||
|
1.000 | 0.080 | 13 | 48368549 | stop gained | C/T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 8 | 1995 | 2016 | ||||||||
|
1.000 | 0.080 | 13 | 48465238 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1989 | 2015 | ||||||||
|
0.827 | 0.200 | 13 | 48459708 | missense variant | C/T | snv | 1.6E-05 |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 8 | 1992 | 2017 | |||||||
|
1.000 | 0.080 | 13 | 48473391 | splice donor variant | G/A;T | snv |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 8 | 2003 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48362847 | stop gained | C/T | snv |
|
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms | 0.700 | 1.000 | 7 | 1994 | 2013 | ||||||||
|
1.000 | 0.080 | 13 | 48367512 | stop gained | C/G;T | snv | 1.2E-05 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 7 | 1994 | 2017 | |||||||
|
1.000 | 0.080 | 13 | 48379594 | stop gained | C/T | snv | 4.0E-06 |
|
Neoplasms; Eye Diseases | 0.700 | 1.000 | 7 | 1989 | 2016 |