| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 164019462 | intergenic variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
9 | 87646780 | intron variant | A/G | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
11 | 65586435 | intron variant | A/G | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
2 | 108267586 | downstream gene variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
10 | 77451504 | intron variant | G/C | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
17 | 872094 | intron variant | G/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2014 | 2014 | ||||||||||
|
0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 |
|
0.700 | 1.000 | 3 | 2011 | 2015 | ||||||||
|
7 | 50729988 | intron variant | G/A | snv | 9.4E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
1 | 112646431 | intron variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
4 | 155698052 | intron variant | T/C | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
6 | 32077074 | intron variant | C/T | snv | 1.0E-02 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
2 | 43155602 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||||
|
3 | 125930560 | synonymous variant | C/A | snv | 0.15 | 0.23 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
6 | 31364962 | upstream gene variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
10 | 62805174 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
1.000 | 0.160 | 3 | 41954644 | missense variant | T/C | snv | 0.79 | 0.67 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||
|
12 | 50144032 | missense variant | A/G;T | snv | 0.69 | 0.71 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
17 | 61406405 | non coding transcript exon variant | C/T | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
11 | 28036410 | missense variant | T/C | snv | 0.31 | 0.38 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.925 | 0.120 | 12 | 123321672 | missense variant | C/T | snv | 0.19 | 0.16 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
10 | 65024342 | intergenic variant | T/C | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 78945760 | 3 prime UTR variant | G/A | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
0.827 | 0.200 | 11 | 8231306 | intron variant | A/G | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |