| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.200 | 2 | 210675783 | missense variant | C/A | snv | 0.30 | 0.33 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | |||||||
|
1.000 | 0.080 | 19 | 32865985 | intron variant | T/C | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 73628380 | downstream gene variant | G/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 9 | 84611173 | intron variant | C/T | snv | 0.60 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 61790354 | non coding transcript exon variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 191708066 | regulatory region variant | C/T | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 14 | 67509105 | intron variant | A/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 10 | 19875064 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
1.000 | 0.080 | 6 | 160130454 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 14 | 63773159 | intron variant | -/ATTT | delins | 0.24 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 61774535 | intron variant | AAAAA/-;AAA;AAAA;AAAAAA | delins | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 18 | 65592400 | intergenic variant | A/G | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 10 | 59709780 | 5 prime UTR variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 10 | 59708831 | intron variant | G/T | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 22 | 18923820 | non coding transcript exon variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 1 | 75671921 | intron variant | T/C | snv | 0.27 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 110454809 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 7 | 157757146 | intron variant | T/G | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 59603270 | intron variant | G/T | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 102617342 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 151100757 | intergenic variant | CA/-;CACA;CACACA;CACACACA | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
1.000 | 0.080 | 6 | 160100853 | intron variant | C/T | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
0.752 | 0.240 | 11 | 61830500 | intron variant | A/G | snv | 0.31 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 80372020 | missense variant | A/G | snv | 0.58 | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |