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 | 0.120 | 9 | 97062415 | regulatory region variant | G/A | snv | 0.77 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
14 | 0.742 | 0.480 | 16 | 10877045 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
3 | 0.925 | 0.200 | 1 | 236537507 | missense variant | T/A | snv | 0.61 | 0.61 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.240 | 6 | 31172270 | intron variant | G/A | snv | 0.21 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 5 | 151059427 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.925 | 0.160 | 6 | 31005088 | regulatory region variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
10 | 0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 32193653 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
20 | 0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 0.925 | 0.160 | 5 | 151060536 | intron variant | G/A | snv | 0.11 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.320 | 6 | 31113428 | upstream gene variant | T/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
8 | 0.827 | 0.320 | 6 | 31513328 | upstream gene variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 30112497 | synonymous variant | G/A | snv | 0.14 | 0.13 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.827 | 0.280 | 6 | 30112216 | intron variant | A/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.827 | 0.280 | 6 | 30110498 | missense variant | C/T | snv | 0.12 | 0.12 | 0.700 | 1.000 | 1 | 2012 | 2012 | |||
|
5 | 0.882 | 0.160 | 6 | 29931900 | upstream gene variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 31387541 | intergenic variant | T/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.120 | 1 | 236537507 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 0.882 | 0.240 | 6 | 30861745 | upstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
4 | 0.851 | 0.280 | 6 | 30856755 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
13 | 0.790 | 0.360 | 6 | 31504943 | intron variant | G/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2012 | 2012 |