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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
42 | 0.641 | 0.520 | 7 | 140781602 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.742 | 0.320 | 7 | 140781603 | stop gained | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
34 | 0.641 | 0.520 | 7 | 140753334 | missense variant | T/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
10 | 0.776 | 0.320 | 7 | 140753332 | missense variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
10 | 0.752 | 0.480 | 7 | 140753333 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.240 | 17 | 43106457 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
14 | 0.742 | 0.280 | 9 | 21971120 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.200 | 2 | 218583025 | missense variant | T/C | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
5 | 0.827 | 0.200 | 2 | 218583026 | missense variant | C/G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.752 | 0.240 | 3 | 41224609 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
14 | 0.742 | 0.200 | 3 | 41224621 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.732 | 0.200 | 3 | 41224607 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
26 | 0.683 | 0.360 | 3 | 41224610 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
23 | 0.683 | 0.240 | 3 | 41224622 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
12 | 0.763 | 0.240 | 3 | 41224645 | missense variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
21 | 0.708 | 0.400 | 3 | 41224646 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
19 | 0.724 | 0.280 | 3 | 41224633 | missense variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.763 | 0.240 | 3 | 41224634 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
17 | 0.701 | 0.200 | 3 | 41224606 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.807 | 0.200 | 8 | 11853379 | missense variant | G/A;C;T | snv | 8.0E-06; 0.38; 2.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
6 | 0.851 | 0.160 | 8 | 11853378 | frameshift variant | AG/- | del | 1.6E-04 | 1.5E-04 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
5 | 0.851 | 0.160 | 17 | 39723405 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 |