| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 3 | 37007004 | missense variant | G/C | snv | 2.1E-04 | 1.9E-04 |
|
0.720 | 1.000 | 2 | 1996 | 2008 | |||||||
|
0.701 | 0.280 | 8 | 89978293 | missense variant | T/C;G | snv | 1.2E-03 |
|
0.020 | 1.000 | 2 | 2008 | 2008 | ||||||||
|
0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.925 | 0.080 | 17 | 50683692 | missense variant | G/A | snv | 3.7E-02 | 3.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.827 | 0.120 | 13 | 49630641 | missense variant | G/A;C;T | snv | 8.8E-05; 1.9E-03 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 9 | 122390332 | synonymous variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 1 | 22882367 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.080 | 1 | 22909025 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.200 | 4 | 88117930 | intron variant | A/G | snv | 8.9E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 1 | 11800285 | synonymous variant | G/T | snv | 9.9E-05 | 1.9E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.200 | 5 | 112767356 | missense variant | A/G | snv | 3.5E-04 | 2.7E-04 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 5 | 112843098 | missense variant | G/A | snv | 2.0E-02 | 1.7E-02 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.925 | 0.080 | 12 | 132847076 | missense variant | C/T | snv | 0.18 | 0.21 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.851 | 0.240 | 4 | 88109768 | intron variant | C/A;G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.925 | 0.120 | 17 | 63917670 | intron variant | A/G;T | snv | 0.32 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 1 | 11794397 | synonymous variant | A/G | snv | 1.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
0.742 | 0.280 | 19 | 40257052 | stop gained | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.763 | 0.320 | 1 | 243695714 | missense variant | C/T | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
1.000 | 0.080 | 9 | 122381513 | synonymous variant | C/A | snv | 0.16 | 0.28 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.882 | 0.120 | 3 | 195932298 | intron variant | A/G | snv |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||||
|
0.827 | 0.160 | 8 | 127428925 | intron variant | C/T | snv | 0.45 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 12 | 121903019 | missense variant | A/G | snv | 2.8E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 1 | 11803027 | synonymous variant | C/T | snv | 1.6E-05 | 4.2E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.160 | 1 | 11794822 | missense variant | C/G;T | snv | 8.0E-06; 2.4E-05 |
|
0.010 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.080 | 9 | 122383529 | stop gained | C/A | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2008 | 2008 |