| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 178975161 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||
|
12 | 20319268 | intergenic variant | T/C | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 231404173 | downstream gene variant | A/C | snv | 0.22 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
6 | 121846992 | intergenic variant | C/T | snv | 0.23 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
14 | 72418763 | intron variant | G/C | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
14 | 85330220 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
11 | 61784455 | non coding transcript exon variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
7 | 100895738 | intron variant | G/A | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
7 | 93921103 | upstream gene variant | G/C | snv | 0.60 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
12 | 33529470 | intergenic variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
12 | 2075300 | intron variant | G/C | snv | 0.21 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
1 | 44546601 | intron variant | A/C | snv | 0.30 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
3 | 49732599 | intron variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
16 | 15816886 | intron variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
14 | 23396676 | intron variant | G/A;C | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
12 | 24605546 | intergenic variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
20 | 38211754 | 3 prime UTR variant | T/C | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
15 | 73371562 | upstream gene variant | A/T | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
7 | 136891353 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
12 | 64583070 | intron variant | T/C | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
2 | 219434819 | upstream gene variant | G/T | snv | 0.44 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||||
|
6 | 118370989 | regulatory region variant | G/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 27802363 | 3 prime UTR variant | C/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
9 | 125516460 | intron variant | A/G | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 66525663 | intergenic variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |