| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
14 | 85330220 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 2 | 2016 | 2018 | |||||||||||
|
14 | 23396676 | intron variant | G/A;C | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2010 | 2013 | ||||||||||
|
6 | 121427396 | intergenic variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
7 | 127329992 | intergenic variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
11 | 62675614 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
20 | 5395977 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
2 | 159196220 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
1 | 87427449 | regulatory region variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
22 | 27785411 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
7 | 100855586 | non coding transcript exon variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1.000 | 0.040 | 1 | 39525916 | 3 prime UTR variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 2 | 217802649 | 3 prime UTR variant | T/A;C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
2 | 227269439 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
2 | 174682945 | intron variant | CCCGCCGCCCC/-;CCCGCCGCCCCCCCGCCGCCCC;CCCGCCGCCCCCCCGCCGCCCCCCCGCCGCCCC;CCCGCCGCCCCCCCGCCGCCCCCCCGCCGCCCCCCCGCCGCCCC | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
18 | 36709322 | missense variant | G/A;T | snv | 8.0E-06; 1.4E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 38754924 | intron variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
16 | 65252967 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
0.882 | 0.120 | 14 | 92649065 | intron variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.040 | 4 | 144564763 | intron variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
3 | 87702408 | intron variant | G/A | snv | 5.5E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 4244902 | intron variant | A/G | snv | 1.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
8 | 61568961 | intron variant | A/G | snv | 2.1E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 9940418 | intron variant | A/T | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
7 | 100168166 | intron variant | T/G | snv | 2.1E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 178975161 | missense variant | G/A | snv | 3.0E-02 | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2018 |