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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.683 | 0.320 | 9 | 22125348 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
2 | 9 | 22112242 | intron variant | A/C | snv | 0.65 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||||
|
2 | 1.000 | 0.080 | 17 | 36032377 | intergenic variant | A/C | snv | 1.0E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 1.000 | 0.040 | 9 | 22072265 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 1.000 | 0.040 | 9 | 22072720 | intron variant | A/C;G | snv | 0.40 | 0.700 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.925 | 0.080 | 9 | 22060936 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
2 | 1.000 | 0.080 | 18 | 31226433 | intergenic variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1.000 | 0.080 | 4 | 4360022 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 9 | 22114496 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 1.000 | 0.080 | 2 | 185953121 | non coding transcript exon variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.040 | 9 | 22115590 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
5 | 0.882 | 0.120 | 9 | 22123767 | intron variant | A/C;T | snv | 0.700 | 1.000 | 2 | 2011 | 2013 | |||||
|
2 | 1.000 | 0.040 | 9 | 22026640 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 10 | 3496602 | splice region variant | A/C;T | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||||
|
44 | 0.620 | 0.520 | 9 | 22124478 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
5 | 0.851 | 0.160 | 9 | 22098620 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 3 | 2011 | 2013 | ||||
|
4 | 0.925 | 0.080 | 9 | 22088095 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
22 | 0.701 | 0.320 | 9 | 22096056 | intron variant | A/G | snv | 0.41 | 0.700 | 1.000 | 2 | 2013 | 2013 | ||||
|
5 | 0.882 | 0.200 | 9 | 22067594 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
7 | 0.827 | 0.120 | 9 | 22103814 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
3 | 1.000 | 0.040 | 9 | 22116047 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
4 | 0.882 | 0.160 | 9 | 22061615 | intron variant | A/G | snv | 0.73 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 2 | 2011 | 2013 | ||||
|
19 | 0.732 | 0.200 | 6 | 12903725 | intron variant | A/G | snv | 0.32 | 0.800 | 1.000 | 2 | 2011 | 2013 |