| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 184080844 | non coding transcript exon variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 115586972 | intron variant | T/C;G | snv | 2.0E-04; 0.65 |
|
0.800 | 1.000 | 4 | 2010 | 2018 | ||||||||||
|
8 | 115590876 | intron variant | C/T | snv | 0.70 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 115590776 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
8 | 115617852 | intron variant | A/T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
8 | 115563232 | intron variant | G/A | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 14317895 | intron variant | G/T | snv | 6.8E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 153302896 | intron variant | A/G | snv | 6.8E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
4 | 153269813 | intron variant | A/G | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
3 | 36937551 | intron variant | A/G | snv | 0.50 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 52546915 | intron variant | C/T | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.040 | 13 | 19526394 | intron variant | C/T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2018 | |||||||||
|
15 | 43434427 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||||
|
1.000 | 0.080 | 19 | 44901805 | 3 prime UTR variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
19 | 44895007 | intron variant | C/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 19 | 44893716 | intron variant | G/A | snv | 2.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
17 | 50901007 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.120 | 5 | 119393591 | 3 prime UTR variant | C/T | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
4 | 68483300 | intron variant | A/C | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
0.827 | 0.320 | 11 | 61790331 | non coding transcript exon variant | T/C | snv | 0.47 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.882 | 0.080 | 4 | 958159 | missense variant | T/C | snv | 0.18 | 0.14 |
|
0.700 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.807 | 0.200 | 7 | 12229791 | missense variant | C/A;G | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
16 | 69351738 | missense variant | A/G;T | snv | 2.5E-02; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 93169033 | intron variant | C/A | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |