| Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1 | 117708553 | regulatory region variant | A/C | snv | 0.16 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||||
|
7 | 1.000 | 0.120 | 1 | 203312047 | downstream gene variant | G/C | snv | 0.40 | 0.700 | 1.000 | 3 | 2016 | 2019 | ||||
|
3 | 1 | 23520972 | missense variant | C/A | snv | 0.45 | 0.39 | 0.700 | 1.000 | 3 | 2016 | 2019 | |||||
|
2 | 1 | 158626052 | intron variant | C/A | snv | 0.27 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 1 | 3774964 | intron variant | A/G | snv | 0.31 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
2 | 1 | 22377698 | intergenic variant | T/G | snv | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
5 | 1 | 158617176 | intron variant | A/T | snv | 0.28 | 0.700 | 1.000 | 2 | 2017 | 2019 | ||||||
|
5 | 1.000 | 0.080 | 1 | 39570256 | intron variant | G/T | snv | 0.14 | 0.700 | 1.000 | 2 | 2016 | 2019 | ||||
|
12 | 1 | 247876149 | missense variant | C/T | snv | 0.31 | 0.26 | 0.700 | 1.000 | 2 | 2017 | 2019 | |||||
|
2 | 1 | 3775434 | frameshift variant | AGCCTAGGGGCTGTGTC/- | delins | 9.2E-03 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 1 | 25405596 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 2 | 2016 | 2017 | ||||||
|
2 | 1 | 230280653 | 3 prime UTR variant | G/T | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 91281449 | intron variant | C/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 203684957 | intron variant | G/A | snv | 0.83 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 243225068 | intron variant | A/T | snv | 0.39 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 211641622 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1 | 230164735 | intron variant | C/G;T | snv | 0.56 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
3 | 1.000 | 0.040 | 1 | 114431068 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1 | 77865541 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 1 | 212192711 | downstream gene variant | A/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 158163271 | intergenic variant | C/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.925 | 0.080 | 1 | 197812068 | regulatory region variant | C/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 1.000 | 0.080 | 1 | 175171183 | intron variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1 | 205213744 | upstream gene variant | A/C | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
4 | 1 | 156730859 | intron variant | T/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 |