| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 1.000 | 0.040 | 7 | 25831489 | non coding transcript exon variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.851 | 0.160 | 9 | 22088261 | intron variant | C/T | snv | 0.41 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 12 | 95181055 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 12 | 95237500 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 19 | 13221196 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 4 | 181401652 | intergenic variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 3 | 104131556 | intergenic variant | C/T | snv | 0.14 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 2 | 31202319 | intron variant | G/A | snv | 4.9E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 103473496 | missense variant | C/T | snv | 6.5E-06; 4.1E-03 | 2.3E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 2 | 66496567 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 1 | 22135618 | intron variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 18 | 61173285 | intergenic variant | T/C;G | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 2 | 215435462 | intron variant | C/T | snv | 0.79 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 131022553 | intron variant | ATTTATTT/-;ATTT;ATTTATTTATTT;ATTTATTTATTTATTT;ATTTATTTATTTATTTATTT | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 4 | 170869637 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 161081992 | intron variant | T/C | snv | 5.6E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 19 | 577782 | missense variant | G/A;T | snv | 9.7E-05; 5.5E-03 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 9 | 22641634 | upstream gene variant | A/G | snv | 0.71 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 8 | 125958758 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.040 | 6 | 158059112 | intron variant | A/C | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 152232583 | intron variant | A/T | snv | 7.1E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 4 | 55142310 | intergenic variant | A/G | snv | 0.25 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 151494876 | intron variant | T/C | snv | 0.37 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 1 | 193234361 | intron variant | -/ATAATT | delins | 0.16 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 1.000 | 0.040 | 6 | 151716421 | intron variant | C/T | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 |