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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 17 | 64047898 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 19 | 12873875 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 27209192 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 10 | 104002988 | missense variant | G/C | snv | 1.2E-04 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | X | 18604645 | missense variant | C/A;T | snv | 4.9E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 1 | 156864760 | missense variant | C/A;T | snv | 4.0E-06; 5.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.040 | 2 | 29232307 | missense variant | C/A;T | snv | 4.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
22 | 0.677 | 0.320 | 9 | 22062135 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
18 | 0.701 | 0.280 | 1 | 155216951 | non coding transcript exon variant | G/A;T | snv | 0.46 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 1 | 210816167 | intron variant | T/G | snv | 0.21 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 12 | 49251457 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 6 | 31347004 | intron variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.701 | 0.320 | 6 | 30374976 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 13 | 32394673 | intron variant | T/C | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
17 | 0.708 | 0.280 | 14 | 68559662 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 20 | 34131991 | upstream gene variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 17 | 37741642 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 11 | 103745837 | intron variant | A/G | snv | 5.4E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 6 | 32699696 | intergenic variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 6 | 29785031 | intergenic variant | A/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.708 | 0.280 | 11 | 103813371 | intron variant | A/G | snv | 7.2E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 5 | 56737113 | regulatory region variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.708 | 0.280 | 1 | 1351675 | upstream gene variant | G/A | snv | 6.8E-03 | 0.700 | 1.000 | 1 | 2016 | 2016 |