| 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 | 170403362 | intergenic variant | A/C | snv | 0.71 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1 | 155018913 | intron variant | T/C | snv | 0.24 |
|
0.700 | 1.000 | 3 | 2018 | 2019 | ||||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||||
|
1 | 119004219 | upstream gene variant | C/T | snv | 0.53 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 23383982 | 3 prime UTR variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 119006795 | TF binding site variant | C/G;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2019 | |||||||||||
|
1 | 219482027 | intergenic variant | T/G | snv | 0.61 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 3056869 | downstream gene variant | A/T | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 205161285 | missense variant | A/G;T | snv | 0.93 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 9275686 | downstream gene variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 2 | 2018 | 2019 | ||||||||||
|
1 | 118961220 | intron variant | C/A;G | snv |
|
0.800 | 1.000 | 2 | 2010 | 2019 | |||||||||||
|
1 | 176842737 | 3 prime UTR variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1 | 65104082 | regulatory region variant | T/C | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 172394384 | non coding transcript exon variant | C/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 212294505 | intron variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 97934347 | intron variant | G/T | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 118962811 | intron variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 236017804 | intron variant | A/G | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 118988874 | intron variant | G/A | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1.000 | 0.040 | 1 | 114498310 | intron variant | C/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1 | 151027261 | synonymous variant | A/G | snv | 0.25 | 0.24 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1 | 119260389 | non coding transcript exon variant | G/A | snv | 6.9E-03 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 19599265 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 243369971 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.040 | 1 | 196615338 | intergenic variant | G/A | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2019 | 2019 |