| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.583 | 0.480 | 12 | 40340400 | missense variant | G/A | snv | 5.3E-04 | 3.6E-04 |
|
0.900 | 0.996 | 2 | 2005 | 2020 | |||||||
|
1.000 | 0.040 | 15 | 54388434 | intron variant | A/C | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 9 | 18622045 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 1 | 43475837 | TF binding site variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 11 | 49685809 | intron variant | A/C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 7 | 22114836 | downstream gene variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 7 | 145337519 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 5 | 53824125 | upstream gene variant | C/A | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | X | 83449447 | intergenic variant | A/C | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 10 | 21916747 | intron variant | C/A | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 13 | 24527029 | intron variant | G/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.742 | 0.120 | 12 | 40363526 | missense variant | G/A | snv | 1.7E-03 | 5.8E-04 |
|
0.900 | 0.925 | 1 | 2006 | 2019 | |||||||
|
1.000 | 0.040 | 10 | 67192300 | intron variant | C/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 6 | 7144958 | intron variant | T/G | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 7 | 72798898 | intron variant | A/C | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 2 | 158866994 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
1.000 | 0.040 | 4 | 89733852 | intron variant | T/C | snv | 0.19 |
|
0.730 | 1.000 | 1 | 2006 | 2012 | ||||||||
|
1.000 | 0.040 | 8 | 91032300 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 7 | 29731981 | non coding transcript exon variant | A/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
1.000 | 0.040 | 18 | 48726444 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.882 | 0.080 | 4 | 89725735 | 3 prime UTR variant | G/A | snv | 0.54 |
|
0.780 | 0.900 | 2 | 2007 | 2015 | ||||||||
|
0.925 | 0.080 | 4 | 89839677 | non coding transcript exon variant | C/A;T | snv |
|
0.720 | 1.000 | 1 | 2007 | 2012 | |||||||||
|
0.776 | 0.240 | 4 | 89716450 | intron variant | G/A | snv | 0.54 |
|
0.900 | 1.000 | 4 | 2008 | 2019 | ||||||||
|
0.925 | 0.120 | 17 | 45974480 | non coding transcript exon variant | A/G | snv | 0.15 | 0.14 |
|
0.720 | 1.000 | 2 | 2008 | 2012 | |||||||
|
1.000 | 0.040 | 4 | 89790619 | intron variant | T/C | snv | 0.45 |
|
0.720 | 1.000 | 2 | 2008 | 2018 |