| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.040 | 9 | 22072265 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2012 | 2012 | |||||
|
3 | 1.000 | 0.040 | 9 | 22115590 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 9 | 22112600 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
3 | 1.000 | 0.080 | 9 | 22114470 | intron variant | G/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 9 | 22025494 | intron variant | G/A | snv | 0.29 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 9 | 22114496 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.120 | 9 | 22123767 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 1.000 | 0.040 | 9 | 22025068 | intron variant | A/T | snv | 0.56 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 9 | 22065003 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.200 | 9 | 22067594 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 7 | 68950051 | intergenic variant | A/- | delins | 0.26 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
7 | 0.827 | 0.120 | 9 | 22103814 | intron variant | A/G | snv | 0.63 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 9 | 22106732 | intron variant | T/A | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
14 | 0.776 | 0.280 | 9 | 22119196 | non coding transcript exon variant | T/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.925 | 0.080 | 9 | 22124124 | intron variant | T/A | snv | 0.43 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.790 | 0.080 | 9 | 22110132 | intron variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 1.000 | 0.040 | 9 | 22116047 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.882 | 0.120 | 9 | 22116072 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 6 | 158762530 | intron variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
17 | 0.742 | 0.320 | 9 | 22115027 | intron variant | A/G | snv | 0.49 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
22 | 0.695 | 0.280 | 9 | 22115960 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
9 | 0.827 | 0.200 | 10 | 113164066 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 8 | 109703703 | intergenic variant | A/G | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
5 | 0.882 | 0.120 | 9 | 21997873 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2012 | 2012 |