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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 45767194 | intron variant | T/G | snv | 0.14 |
|
0.700 | 1.000 | 2 | 2018 | 2018 | ||||||||||
|
17 | 45638789 | intron variant | A/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45749271 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
17 | 45671346 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45671346 | intron variant | A/G | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45704381 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45753572 | intron variant | G/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 45733706 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45733706 | intron variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45701314 | intron variant | T/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 45654353 | non coding transcript exon variant | A/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
17 | 45726820 | intron variant | T/C | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45661828 | intron variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45825175 | intron variant | A/G | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
17 | 45818666 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
17 | 45618793 | upstream gene variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45618793 | upstream gene variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45618793 | upstream gene variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45618793 | upstream gene variant | A/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
17 | 45733530 | splice region variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 0.040 | 17 | 45779092 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2018 | 2019 | |||||||||
|
1.000 | 0.040 | 17 | 45705974 | intron variant | T/C | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 45699947 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 45699947 | intron variant | A/G | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.040 | 17 | 45834077 | intron variant | T/C | snv | 0.15 | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |