| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.080 | 8 | 19955669 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
0.925 | 0.120 | 7 | 73575060 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
11 | 116791615 | synonymous variant | G/T | snv | 7.7E-02 | 0.10 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
19 | 19610913 | intron variant | G/A | snv | 8.6E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||||
|
8 | 19962922 | intron variant | T/C | snv | 9.4E-02 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.925 | 0.120 | 7 | 73612048 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
8 | 19985951 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||||||
|
0.851 | 0.200 | 11 | 61836038 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 2 | 2008 | 2012 | |||||||||
|
1 | 62590441 | intron variant | G/A | snv | 0.42 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.790 | 0.240 | 16 | 56961324 | upstream gene variant | C/A;G | snv | 0.51; 5.7E-06 |
|
0.700 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
11 | 116752943 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.662 | 0.360 | 19 | 44892362 | intron variant | A/G | snv | 0.13 | 0.13 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | |||||||
|
0.790 | 0.360 | 19 | 19219115 | missense variant | C/A;T | snv | 2.8E-05; 5.9E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
8 | 19962025 | intron variant | T/G | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 19 | 19499787 | intron variant | C/G;T | snv | 7.4E-02 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||
|
8 | 19967357 | downstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
15 | 58445142 | intron variant | T/A;G | snv |
|
0.700 | 1.000 | 2 | 2009 | 2012 | |||||||||||
|
11 | 116769521 | intron variant | A/G | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
2 | 218439407 | intron variant | G/A | snv | 4.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116851110 | intron variant | C/T | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 116851325 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
5 | 75502331 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
9 | 16597467 | intron variant | G/A | snv | 3.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.925 | 0.080 | 19 | 44903416 | 3 prime UTR variant | G/A | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |