| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 6 | 111374888 | missense variant | T/C | snv | 5.9E-02 | 5.6E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 6 | 111334327 | intron variant | G/A | snv | 8.7E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.807 | 0.120 | 11 | 110091706 | intron variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.925 | 0.040 | 19 | 10707416 | intron variant | G/A | snv | 0.57 | 0.59 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | |||||||
|
1.000 | 0.040 | 14 | 35212966 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 18 | 54293380 | intron variant | C/T | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 136501661 | intron variant | T/A | snv | 8.5E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.807 | 0.120 | 17 | 27797882 | intron variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
0.882 | 0.280 | 17 | 27779649 | intron variant | A/G | snv | 0.31 |
|
0.820 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.882 | 0.200 | 5 | 159332892 | non coding transcript exon variant | A/G | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
1.000 | 0.040 | 5 | 159345574 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.807 | 0.160 | 6 | 159085568 | intron variant | C/T | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||
|
1.000 | 0.040 | 3 | 18742931 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 9 | 108054739 | regulatory region variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 8208035 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 2 | 60856371 | intron variant | T/C | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 2 | 60854407 | intron variant | C/T | snv | 0.35 |
|
0.800 | 1.000 | 1 | 2010 | 2015 | ||||||||
|
0.925 | 0.040 | 2 | 162404181 | intron variant | T/C | snv | 9.6E-02 |
|
0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||
|
0.716 | 0.440 | 1 | 67228519 | intron variant | A/G;T | snv |
|
0.830 | 1.000 | 2 | 2009 | 2016 | |||||||||
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.857 | 1 | 2008 | 2018 | |||||||
|
0.882 | 0.080 | 1 | 67260421 | downstream gene variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.585 | 0.720 | 5 | 132660272 | missense variant | A/G | snv | 0.72 | 0.77 |
|
0.860 | 0.900 | 2 | 2008 | 2015 | |||||||
|
0.790 | 0.160 | 5 | 132660753 | 3 prime UTR variant | A/G | snv | 0.81 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 5 | 159323761 | intron variant | C/G;T | snv | 0.26 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.807 | 0.200 | 6 | 31306778 | intron variant | C/T | snv | 0.12 |
|
0.810 | 1.000 | 2 | 2008 | 2018 |