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 | 0.160 | 12 | 84492794 | intergenic variant | T/G | snv | 6.3E-02 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 17 | 36549567 | intron variant | G/A | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 3 | 3100489 | intron variant | A/G | snv | 0.68 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 13 | 73465798 | intron variant | C/G | snv | 4.4E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.120 | 13 | 82963398 | intron variant | A/C | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 13 | 40643068 | intron variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 9 | 79570457 | upstream gene variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.200 | 1 | 152417976 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.120 | 14 | 24264066 | 5 prime UTR variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
1.000 | 0.040 | 2 | 227860010 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.851 | 0.160 | 6 | 52427338 | intron variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2015 | 2015 | ||||||||
|
1.000 | 0.040 | 13 | 99435465 | upstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.120 | 3 | 190325950 | intron variant | G/A | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.882 | 0.120 | 3 | 190304727 | downstream gene variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.080 | 2 | 233204655 | missense variant | C/A;T | snv | 1.0E-05; 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.040 | 6 | 90248783 | intron variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.120 | 17 | 74770161 | downstream gene variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2006 | 2006 | |||||||||
|
0.807 | 0.400 | 3 | 190321812 | intron variant | G/A;C | snv |
|
0.010 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 2 | 8302417 | non coding transcript exon variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.807 | 0.200 | 2 | 209941379 | missense variant | G/A | snv | 1.9E-05 | 2.1E-05 |
|
0.700 | 0 | ||||||||||
|
0.807 | 0.200 | 3 | 192335434 | missense variant | C/T | snv |
|
0.700 | 0 | ||||||||||||
|
0.925 | 0.120 | 17 | 74773195 | non coding transcript exon variant | T/C | snv | 0.51 |
|
0.010 | 1.000 | 1 | 2006 | 2006 | ||||||||
|
0.882 | 0.120 | 11 | 7946812 | intergenic variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
0.925 | 0.120 | 1 | 152205542 | intron variant | C/G;T | snv |
|
0.020 | 0.500 | 2 | 2010 | 2013 | |||||||||
|
1.000 | 0.040 | 6 | 37024416 | non coding transcript exon variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |