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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 1.000 | 0.080 | 16 | 53791576 | intron variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53766717 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.851 | 0.120 | 16 | 53766842 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 1.000 | 0.080 | 16 | 53766656 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 0.882 | 0.160 | 16 | 53765595 | intron variant | G/A | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.925 | 0.120 | 16 | 53785257 | intron variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 16 | 53782926 | intron variant | G/A | snv | 0.40 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53796579 | intron variant | T/C | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53793267 | intron variant | C/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53796540 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.882 | 0.120 | 16 | 53766065 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 1.000 | 0.080 | 16 | 53765993 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 1.000 | 0.080 | 16 | 53768073 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53785286 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
2 | 1.000 | 0.080 | 16 | 53767637 | intron variant | C/T | snv | 0.42 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53797234 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53797859 | intron variant | G/T | snv | 0.35 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.080 | 16 | 53772368 | intron variant | C/G | snv | 0.58 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.925 | 0.120 | 6 | 50835337 | intron variant | A/G | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 3 | 85777231 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 5 | 76225103 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 6 | 50898107 | non coding transcript exon variant | C/T | snv | 0.16 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 6 | 108656460 | 5 prime UTR variant | T/C | snv | 0.55 | 0.700 | 1.000 | 1 | 2015 | 2015 |