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 | 3 | 37481337 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 3 | 37475971 | intron variant | C/T | snv | 0.34 | 0.710 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29639652 | upstream gene variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29952759 | upstream gene variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 6 | 29639269 | upstream gene variant | G/C;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 10 | 133555754 | non coding transcript exon variant | C/T | snv | 0.13 | 9.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
16 | 0.716 | 0.400 | 15 | 81285798 | missense variant | C/T | snv | 0.17 | 0.11 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
1 | 1.000 | 0.120 | 6 | 29714462 | intergenic variant | C/T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 6 | 29716031 | intergenic variant | G/A | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 1.000 | 0.120 | 10 | 133540621 | intron variant | T/G | snv | 0.64 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 10 | 133533455 | intron variant | G/A | snv | 0.12 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 6 | 29952476 | upstream gene variant | A/C | snv | 0.62 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 10 | 133524462 | intron variant | C/T | snv | 0.63 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.120 | 3 | 37477054 | intron variant | T/A | snv | 0.13 | 0.710 | 1.000 | 2 | 2009 | 2010 | ||||
|
1 | 1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 2 | 2009 | 2010 | ||||
|
8 | 0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
13 | 0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
31 | 0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.700 | 1.000 | 1 | 2010 | 2010 | |||
|
17 | 0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
7 | 0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.160 | 3 | 128319530 | intron variant | C/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 | 0.700 | 1.000 | 1 | 2010 | 2010 |