| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 54528005 | intergenic variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||||
|
0.827 | 0.200 | 9 | 133279294 | upstream gene variant | T/G | snv | 0.81 |
|
0.700 | 1.000 | 2 | 2010 | 2017 | ||||||||
|
0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
19 | 49548304 | downstream gene variant | -/GGTT | delins | 0.37 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 69020433 | upstream gene variant | A/T | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 134684558 | intron variant | A/G | snv | 1.9E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100701281 | upstream gene variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 198626376 | intergenic variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
6 | 26072764 | intergenic variant | C/T | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 56710234 | intergenic variant | AACAAA/-;AACAAAAACAAA;AACAAAAACAAAAACAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 100716851 | upstream gene variant | C/T | snv | 4.6E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 1253374 | intergenic variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
6 | 43973400 | intergenic variant | T/C | snv | 3.3E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
4 | 54520711 | intergenic variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
21 | 15205839 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
4 | 54542708 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.724 | 0.240 | 21 | 39094644 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
19 | 35456988 | intergenic variant | G/A | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 42600063 | intergenic variant | T/C | snv | 0.66 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 88792238 | intergenic variant | T/G | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
8 | 23515275 | intergenic variant | TTTGTTTGTTTG/-;TTTG;TTTGTTTG;TTTGTTTGTTTGTTTG;TTTGTTTGTTTGTTTGTTTG | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
3 | 194956076 | intergenic variant | G/A | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
12 | 51924594 | downstream gene variant | A/T | snv | 8.9E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 196180782 | intergenic variant | T/C | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
20 | 52701812 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 |