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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv | 0.820 | 1.000 | 3 | 2013 | 2019 | |||||
|
4 | 0.851 | 0.040 | 22 | 38080269 | intron variant | C/T | snv | 0.24 | 0.810 | 1.000 | 3 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 31245188 | intron variant | T/C | snv | 0.34 | 0.820 | 0.667 | 3 | 2013 | 2019 | ||||
|
8 | 0.776 | 0.320 | 6 | 31947158 | synonymous variant | A/G | snv | 0.82 | 0.85 | 0.020 | 0.500 | 2 | 2009 | 2019 | |||
|
5 | 0.851 | 0.160 | 6 | 31946402 | missense variant | C/G;T | snv | 4.1E-06; 0.12 | 0.020 | 0.500 | 2 | 2014 | 2019 | ||||
|
13 | 0.724 | 0.480 | 10 | 67883321 | upstream gene variant | T/C;G | snv | 0.020 | 1.000 | 2 | 2015 | 2019 | |||||
|
1 | 1.000 | 0.040 | 3 | 99762695 | intron variant | G/T | snv | 8.0E-02 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
5 | 0.851 | 0.040 | 3 | 99677428 | intron variant | T/C | snv | 9.5E-02 | 0.710 | 1.000 | 2 | 2011 | 2019 | ||||
|
2 | 0.925 | 0.080 | 4 | 55089065 | intron variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2012 | 2019 | |||||
|
10 | 0.851 | 0.040 | 16 | 56960616 | upstream gene variant | C/G;T | snv | 0.28 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
10 | 0.882 | 0.120 | 16 | 56963321 | intron variant | G/A | snv | 0.26 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
9 | 0.827 | 0.080 | 15 | 58388755 | intron variant | T/C | snv | 0.54 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
15 | 0.807 | 0.120 | 15 | 58431740 | intron variant | G/A | snv | 0.33 | 0.710 | 1.000 | 2 | 2016 | 2019 | ||||
|
3 | 0.882 | 0.040 | 4 | 109717654 | synonymous variant | C/T | snv | 0.37 | 0.31 | 0.810 | 0.500 | 2 | 2010 | 2019 | |||
|
48 | 0.600 | 0.640 | 16 | 55477894 | intron variant | C/T | snv | 0.19 | 0.020 | 0.500 | 2 | 2017 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 30806580 | intron variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2013 | 2019 | |||||
|
1 | 1.000 | 0.040 | 9 | 99146083 | intron variant | T/G | snv | 0.25 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
2 | 1.000 | 0.040 | 1 | 196682702 | intron variant | T/C | snv | 0.22 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
8 | 0.827 | 0.120 | 10 | 49539493 | 5 prime UTR variant | G/C | snv | 0.30 | 0.020 | 1.000 | 2 | 2010 | 2019 | ||||
|
1 | 1.000 | 0.040 | 6 | 116122572 | intron variant | T/A | snv | 0.47 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
43 | 0.708 | 0.520 | 19 | 44919689 | downstream gene variant | A/G | snv | 0.18 | 0.810 | 1.000 | 2 | 2013 | 2019 | ||||
|
1 | 1.000 | 0.040 | 4 | 109669323 | intron variant | G/A;T | snv | 0.810 | 1.000 | 2 | 2013 | 2019 | |||||
|
3 | 0.925 | 0.040 | 22 | 32663679 | intron variant | G/C | snv | 0.26 | 0.710 | 1.000 | 2 | 2013 | 2019 | ||||
|
5 | 0.827 | 0.160 | 12 | 111694806 | intron variant | G/A;T | snv | 0.710 | 1.000 | 2 | 2016 | 2019 | |||||
|
2 | 1.000 | 0.040 | 15 | 58396268 | intron variant | C/G | snv | 0.55 | 0.810 | 1.000 | 2 | 2013 | 2019 |