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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 13 | 2002 | 2014 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.750 | 1.000 | 16 | 2002 | 2018 | ||||
|
4 | 0.851 | 0.080 | 7 | 140781602 | missense variant | CC/AA;GA | mnv | 0.700 | 1.000 | 9 | 2002 | 2013 | |||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 9 | 2002 | 2013 | ||||
|
2 | 1.000 | 0.080 | 7 | 140781593 | missense variant | T/C | snv | 0.700 | 1.000 | 8 | 2002 | 2013 | |||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 8 | 2002 | 2013 | ||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
8 | 0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.280 | 7 | 140801550 | missense variant | G/A;C;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 7 | 140801551 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
6 | 0.807 | 0.280 | 7 | 140801537 | missense variant | T/A;C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.280 | 7 | 140753392 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.050 | 1.000 | 5 | 2006 | 2018 | |||||
|
8 | 0.807 | 0.160 | 7 | 140924673 | missense variant | C/T | snv | 9.3E-06 | 0.020 | 1.000 | 2 | 2016 | 2016 | ||||
|
20 | 0.763 | 0.480 | 7 | 140781617 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
3 | 0.882 | 0.080 | 7 | 140753319 | missense variant | C/G | snv | 0.010 | < 0.001 | 1 | 2014 | 2014 |