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 | 14 | 23117837 | intron variant | A/C | snv | 6.3E-03 | 6.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 11 | 49933299 | intergenic variant | A/C | snv | 3.5E-03 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 1 | 9295413 | intron variant | A/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 18 | 12856909 | intron variant | A/C | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 17 | 2962495 | non coding transcript exon variant | A/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 143046673 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 7 | 20593249 | downstream gene variant | A/C | snv | 1.3E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 60223913 | intergenic variant | A/C | snv | 0.38 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 46208969 | intron variant | A/C | snv | 4.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 112121666 | 3 prime UTR variant | A/C | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 6 | 42542864 | intergenic variant | A/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 6 | 45666355 | downstream gene variant | A/C | snv | 0.28 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 22 | 24225858 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2016 | 2019 | |||||||
|
1 | 7 | 124813204 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 18 | 60304392 | downstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
13 | 10 | 27068541 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 2 | 136168220 | regulatory region variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
6 | 0.925 | 0.160 | 14 | 23120140 | upstream gene variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 11 | 61062895 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 57378752 | missense variant | A/C;G | snv | 4.0E-06; 5.9E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 19 | 39735635 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
1 | 16 | 78887166 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 16 | 57041268 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 14 | 24980020 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 11 | 309127 | missense variant | A/C;G;T | snv | 0.42 | 0.700 | 1.000 | 1 | 2019 | 2019 |