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 | 0.080 | 13 | 48453069 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 13 | 48453069 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
0.882 | 0.080 | 13 | 48453069 | missense variant | C/T | snv | 4.0E-06 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1.000 | 0.080 | 13 | 48463758 | missense variant | T/C | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||||||
|
0.925 | 0.080 | 13 | 48459611 | intron variant | G/A | snv | 0.89 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 13 | 48459611 | intron variant | G/A | snv | 0.89 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 13 | 48412896 | 5 prime UTR variant | A/G | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 13 | 48412896 | 5 prime UTR variant | A/G | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 13 | 48477345 | intron variant | T/A | snv | 0.24 | 0.20 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 13 | 48477345 | intron variant | T/A | snv | 0.24 | 0.20 |
|
Neoplasms; Stomatognathic Diseases | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1.000 | 0.080 | 13 | 48371039 | intron variant | G/A | snv | 0.11 |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||||
|
0.925 | 0.080 | 13 | 48474923 | intron variant | C/G | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
0.925 | 0.080 | 13 | 48474923 | intron variant | C/G | snv | 0.11 |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
1.000 | 0.080 | 13 | 48384180 | intron variant | C/T | snv | 0.77 |
|
Neoplasms; Eye Diseases | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1.000 | 0.080 | 13 | 48397800 | intron variant | G/A;T | snv |
|
Neoplasms; Eye Diseases | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48397800 | intron variant | G/A;T | snv |
|
Neoplasms | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
1.000 | 0.080 | 13 | 48453041 | missense variant | C/T | snv |
|
Neoplasms; Respiratory Tract Diseases | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.925 | 0.080 | 13 | 48423557 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||||||
|
0.925 | 0.080 | 13 | 48423557 | intron variant | G/A;T | snv |
|
Neoplasms; Skin and Connective Tissue Diseases | 0.020 | 1.000 | 2 | 2006 | 2006 | ||||||||
|
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 |