Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 19 | 48128007 | stop gained | G/A;C;T | snv | 1.6E-05; 4.0E-06; 4.0E-06 |
|
0.700 | 0 | |||||||||||
|
1.000 | 0.080 | 19 | 48153884 | missense variant | T/C | snv | 4.7E-05 | 1.4E-05 |
|
0.700 | 0 | ||||||||||
|
0.882 | 0.080 | 19 | 48128151 | intron variant | C/T | snv | 0.29 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48128151 | intron variant | C/T | snv | 0.29 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48128151 | intron variant | C/T | snv | 0.29 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48165573 | 5 prime UTR variant | G/A;C | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48165573 | 5 prime UTR variant | G/A;C | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48165573 | 5 prime UTR variant | G/A;C | snv | 0.13 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | ||||||||
|
0.882 | 0.080 | 19 | 48143984 | intron variant | T/C | snv | 0.12 | 0.15 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 48143984 | intron variant | T/C | snv | 0.12 | 0.15 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 48143984 | intron variant | T/C | snv | 0.12 | 0.15 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 48165657 | intron variant | T/C | snv | 5.6E-02 | 9.6E-02 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 48165657 | intron variant | T/C | snv | 5.6E-02 | 9.6E-02 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 48165657 | intron variant | T/C | snv | 5.6E-02 | 9.6E-02 |
|
0.020 | 0.500 | 2 | 2008 | 2015 | |||||||
|
0.882 | 0.080 | 19 | 48119170 | synonymous variant | A/G | snv | 0.58 | 0.64 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 19 | 48119170 | synonymous variant | A/G | snv | 0.58 | 0.64 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 19 | 48119170 | synonymous variant | A/G | snv | 0.58 | 0.64 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.080 | 19 | 48161802 | intron variant | G/A | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 19 | 48161802 | intron variant | G/A | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 19 | 48161802 | intron variant | G/A | snv | 0.30 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |