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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.851 | 0.200 | 4 | 45180510 | intergenic variant | A/G | snv | 0.37 | 0.700 | 1.000 | 14 | 2009 | 2019 | ||||
|
11 | 1.000 | 0.080 | 1 | 177920345 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 14 | 2010 | 2019 | ||||
|
12 | 1.000 | 0.080 | 18 | 60161902 | upstream gene variant | T/C | snv | 0.21 | 0.700 | 1.000 | 12 | 2014 | 2019 | ||||
|
17 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 12 | 2009 | 2019 | |||||
|
34 | 0.776 | 0.520 | 4 | 102267552 | missense variant | C/A;T | snv | 4.0E-06; 4.5E-02 | 0.700 | 1.000 | 11 | 2010 | 2019 | ||||
|
21 | 0.827 | 0.120 | 16 | 53769662 | intron variant | T/A | snv | 0.31 | 0.700 | 1.000 | 11 | 2010 | 2019 | ||||
|
4 | 13 | 53528071 | intron variant | G/A;T | snv | 0.12 | 0.700 | 1.000 | 10 | 2015 | 2019 | ||||||
|
9 | 19 | 47065746 | 3 prime UTR variant | G/A | snv | 0.50 | 0.700 | 1.000 | 10 | 2010 | 2019 | ||||||
|
10 | 0.925 | 0.120 | 5 | 75719417 | upstream gene variant | T/G | snv | 0.42 | 0.700 | 1.000 | 9 | 2010 | 2019 | ||||
|
93 | 0.554 | 0.680 | 10 | 112998590 | intron variant | C/G;T | snv | 0.800 | 1.000 | 9 | 2012 | 2019 | |||||
|
3 | 1.000 | 0.080 | 2 | 24927427 | intergenic variant | A/G | snv | 0.57 | 0.700 | 1.000 | 8 | 2015 | 2019 | ||||
|
2 | 2 | 632348 | intergenic variant | A/G | snv | 0.85 | 0.700 | 1.000 | 8 | 2015 | 2019 | ||||||
|
7 | 1.000 | 0.080 | 11 | 47629441 | intron variant | C/T | snv | 0.36 | 0.700 | 1.000 | 8 | 2010 | 2018 | ||||
|
6 | 14 | 25458973 | intergenic variant | C/A | snv | 0.37 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||||
|
7 | 1.000 | 0.080 | 16 | 19924067 | intergenic variant | G/A | snv | 0.11 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||
|
8 | 0.925 | 0.120 | 3 | 186106215 | intron variant | T/C | snv | 0.86 | 0.700 | 1.000 | 7 | 2013 | 2019 | ||||
|
4 | 1 | 109612066 | intron variant | T/C | snv | 4.6E-02 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||||
|
3 | 8 | 75894349 | intergenic variant | T/C | snv | 0.24 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||||
|
3 | 9 | 117616205 | intergenic variant | T/C | snv | 0.45 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||||
|
3 | 3 | 61250788 | intron variant | C/T | snv | 0.56 | 0.700 | 1.000 | 7 | 2015 | 2018 | ||||||
|
6 | 1.000 | 0.080 | 1 | 72285502 | intron variant | T/C | snv | 0.62 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.700 | 1.000 | 7 | 2009 | 2019 | |||
|
2 | 5 | 124994829 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 7 | 2015 | 2019 | |||||||
|
3 | 1.000 | 0.040 | 13 | 65631572 | intergenic variant | A/G | snv | 0.49 | 0.700 | 1.000 | 7 | 2015 | 2019 | ||||
|
12 | 0.790 | 0.240 | 11 | 27662970 | intron variant | A/G | snv | 0.16 | 0.700 | 1.000 | 6 | 2014 | 2019 |