| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.040 | 4 | 80259918 | intergenic variant | A/T | snv | 0.25 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||
|
6 | 43312975 | intron variant | C/T | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
10 | 62805174 | missense variant | C/G | snv | 0.35 | 0.31 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | |||||||||
|
0.882 | 0.040 | 10 | 18419869 | intron variant | A/T | snv | 0.27 |
|
0.700 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
11 | 27706555 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||||
|
12 | 115760536 | intron variant | A/G | snv | 0.16 |
|
0.700 | 1.000 | 2 | 2015 | 2017 | ||||||||||
|
0.925 | 0.120 | 4 | 80248758 | intergenic variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
12 | 89632685 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
12 | 89675499 | intron variant | T/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
12 | 89665065 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
10 | 103947673 | intergenic variant | A/G | snv | 5.2E-02 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
11 | 130403335 | non coding transcript exon variant | A/T | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
1.000 | 0.040 | 16 | 89637957 | missense variant | G/A;C | snv | 1.3E-05; 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2016 | ||||||||
|
0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||
|
21 | 38611524 | intron variant | C/T | snv | 7.7E-03 |
|
0.700 | 1.000 | 2 | 2017 | 2019 | ||||||||||
|
7 | 45968511 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||||
|
1 | 112688881 | 5 prime UTR variant | G/T | snv | 6.6E-02 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||||
|
1 | 172388301 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 2 | 2017 | 2017 | |||||||||||
|
1.000 | 0.080 | 4 | 80261400 | intergenic variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2017 | 2018 | ||||||||
|
0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
21 | 43340723 | intergenic variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
15 | 94768842 | intergenic variant | T/C | snv | 0.46 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
17 | 49325445 | intron variant | C/T | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2016 | 2017 | ||||||||||
|
6 | 51967696 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2017 | 2017 | ||||||||||
|
16 | 2036420 | missense variant | C/T | snv | 3.4E-03 | 3.5E-03 |
|
0.700 | 1.000 | 2 | 2017 | 2019 |