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 | 0.040 | 12 | 2311211 | intron variant | T/C;G | snv |
|
0.800 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 3 | 185158995 | upstream gene variant | G/A | snv | 0.80 |
|
0.810 | 1.000 | 2 | 2013 | 2017 | ||||||||
|
0.790 | 0.120 | 6 | 152469438 | intron variant | G/T | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 18 | 55153893 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 2 | 2013 | 2019 | |||||||||
|
1.000 | 0.040 | 5 | 159580770 | intron variant | C/A | snv | 0.74 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 99478337 | intron variant | C/T | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 52774325 | upstream gene variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.882 | 0.040 | 3 | 52786995 | missense variant | A/G | snv | 0.40 | 0.42 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
1.000 | 0.040 | 6 | 16255812 | intron variant | G/T | snv | 7.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 8 | 4323322 | intron variant | C/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 2 | 99405808 | non coding transcript exon variant | G/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 52730608 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.925 | 0.040 | 3 | 52684264 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
0.827 | 0.040 | 10 | 60462349 | intron variant | T/C | snv | 8.0E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 10 | 60519366 | intron variant | C/T | snv | 9.5E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 52640651 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 52663147 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 3 | 52697467 | intron variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.040 | 18 | 55399097 | intron variant | A/C | snv | 6.3E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.851 | 0.080 | 3 | 52687289 | missense variant | G/A | snv | 0.38 | 0.33 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
0.776 | 0.160 | 10 | 102900247 | intron variant | A/G | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
0.827 | 0.040 | 10 | 103146454 | intron variant | T/C | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1.000 | 0.040 | 1 | 224351238 | intergenic variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 |