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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 1.000 | 0.080 | 10 | 100315722 | intron variant | G/A | snv | 0.34 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
16 | 0.851 | 0.120 | 4 | 102363708 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
22 | 0.851 | 0.120 | 1 | 109275684 | 3 prime UTR variant | G/T | snv | 0.74 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 4 | 110413574 | intron variant | G/T | snv | 0.68 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 6 | 11042676 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
16 | 0.851 | 0.120 | 4 | 110810780 | intergenic variant | T/C | snv | 0.47 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
24 | 12 | 111280427 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||||
|
3 | 6 | 111425880 | intron variant | G/C | snv | 0.46 | 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 | |||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
47 | 0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 | 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 | |||||
|
23 | 0.724 | 0.480 | 8 | 117172544 | missense variant | C/A;T | snv | 0.29 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1 | 119714953 | intron variant | A/G | snv | 0.69 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1 | 119749667 | intron variant | T/G | snv | 8.2E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||||
|
3 | 12 | 120722812 | 3 prime UTR variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
10 | 0.851 | 0.200 | 12 | 120951159 | intron variant | A/C | snv | 0.70 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
16 | 0.851 | 0.120 | 12 | 122479003 | intron variant | C/T | snv | 5.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 11 | 123009573 | intergenic variant | G/A | snv | 3.4E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
17 | 0.827 | 0.120 | 3 | 123019460 | intron variant | A/G | snv | 0.34 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
16 | 0.851 | 0.120 | 8 | 125466108 | upstream gene variant | A/C | snv | 0.43 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 5 | 132329685 | intron variant | A/G | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
10 | 9 | 133268030 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
16 | 0.851 | 0.120 | 4 | 139829967 | intron variant | G/C | snv | 0.14 | 0.700 | 1.000 | 1 | 2016 | 2016 |