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 | 7 | 100486348 | intron variant | G/A | snv | 4.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 100537063 | upstream gene variant | A/C | snv | 5.5E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 7 | 100635310 | intron variant | T/A;C | snv | 1.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
14 | 0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 7 | 100642673 | intron variant | A/G | snv | 0.65 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 7 | 100645788 | intron variant | T/C | snv | 0.21 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 7 | 100677821 | splice region variant | G/A | snv | 2.6E-03 | 2.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 7 | 100716851 | upstream gene variant | C/T | snv | 4.6E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
5 | 0.925 | 0.160 | 7 | 100723905 | downstream gene variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 11 | 10156890 | intron variant | T/C | snv | 0.25 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 11 | 10228118 | intron variant | TTGT/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1 | 10297748 | intron variant | G/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 4 | 110810780 | intergenic variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 2 | 111410354 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 2 | 111493181 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
17 | 0.807 | 0.280 | 12 | 111634620 | intergenic variant | A/G | snv | 0.29 | 0.800 | 1.000 | 2 | 2009 | 2017 | ||||
|
22 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 2 | 113207621 | 3 prime UTR variant | T/A | snv | 0.27 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
2 | 8 | 115521531 | intron variant | A/G | snv | 0.55 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.851 | 0.360 | 11 | 116791863 | 5 prime UTR variant | C/T | snv | 0.88 | 0.89 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
16 | 0.851 | 0.120 | 11 | 117037567 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |