| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.040 | 9 | 74002804 | intergenic variant | T/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 5 | 35494346 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.040 | 20 | 45986353 | regulatory region variant | TTCT/-;TTCTTTCT | delins | 2.0E-02 |
|
0.710 | 1.000 | 1 | 2016 | 2018 | ||||||||
|
0.851 | 0.040 | 1 | 196644043 | intergenic variant | T/C | snv | 7.7E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 99161090 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.040 | 18 | 77147088 | regulatory region variant | C/A | snv | 0.63 |
|
0.710 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
0.851 | 0.040 | 20 | 58078668 | regulatory region variant | -/A | delins | 0.21 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.040 | 6 | 159650127 | intron variant | G/A | snv | 0.73 |
|
0.710 | 1.000 | 1 | 2012 | 2014 | ||||||||
|
0.851 | 0.040 | 1 | 196846320 | upstream gene variant | T/G | snv | 0.67 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 16 | 75200974 | downstream gene variant | C/A | snv | 6.2E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.120 | 9 | 104899461 | intron variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.160 | 12 | 111694806 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.040 | 3 | 64729479 | intron variant | C/T | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.827 | 0.080 | 15 | 58388755 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.590 | 0.600 | 19 | 44908684 | missense variant | T/C | snv | 0.14 | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.040 | 10 | 24710664 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.716 | 0.240 | 10 | 122454932 | missense variant | G/T | snv | 0.26 | 0.23 |
|
0.800 | 1.000 | 1 | 2008 | 2016 | |||||||
|
0.851 | 0.040 | 10 | 122456049 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 13 | 31247103 | splice region variant | C/T | snv | 0.40 | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.763 | 0.360 | 6 | 31936027 | missense variant | G/A;C | snv | 4.1E-06; 3.9E-02 |
|
0.710 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.763 | 0.240 | 19 | 6718376 | missense variant | G/C;T | snv | 0.15 |
|
0.720 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
0.827 | 0.040 | 19 | 6718135 | missense variant | T/G | snv | 2.8E-03 | 2.4E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.851 | 0.040 | 5 | 39327786 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.851 | 0.040 | 16 | 56963437 | intron variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 |