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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 7 | 44166307 | intron variant | A/C | snv | 0.44 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 16 | 68292297 | non coding transcript exon variant | A/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 12 | 120722812 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 17 | 63486097 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
2 | 1 | 21494497 | intergenic variant | A/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
19 | 0.851 | 0.120 | 12 | 89656726 | intron variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 22 | 18984937 | intron variant | A/G | snv | 7.9E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 210752170 | intergenic variant | A/G | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
20 | 0.851 | 0.120 | 15 | 58435126 | non coding transcript exon variant | A/G | snv | 0.80 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
9 | 1.000 | 0.080 | 12 | 56471554 | missense variant | A/G | snv | 0.17 | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 5 | 132329685 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 1 | 119714953 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
22 | 0.807 | 0.240 | 19 | 44744370 | upstream gene variant | A/G | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 6 | 85407411 | intergenic variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
21 | 0.807 | 0.160 | 2 | 21065449 | intergenic variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.925 | 0.120 | 10 | 59689806 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 16 | 15036113 | synonymous variant | A/G | snv | 0.35 | 0.30 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
17 | 0.827 | 0.120 | 3 | 123019460 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
19 | 0.827 | 0.160 | 2 | 27412596 | upstream gene variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 10 | 5095844 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
22 | 0.790 | 0.280 | 10 | 112996282 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
16 | 0.851 | 0.120 | 11 | 117037567 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |