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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.120 | 16 | 19074000 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.120 | 16 | 19075775 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 1.000 | 0.080 | 16 | 89524099 | frameshift variant | TC/- | delins | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.120 | 1 | 39967632 | missense variant | C/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.160 | 16 | 89510539 | stop gained | T/A | snv | 4.2E-04 | 1.8E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.160 | 16 | 89531961 | missense variant | G/A;C | snv | 8.3E-04; 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.160 | 16 | 89550545 | missense variant | C/T | snv | 3.6E-05 | 1.5E-04 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.851 | 0.080 | 6 | 41909351 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
5 | 0.882 | 0.160 | 16 | 89531903 | splice acceptor variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.882 | 0.160 | 16 | 89553853 | stop gained | G/A;C | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.882 | 0.160 | 16 | 89556954 | missense variant | C/T | snv | 1.4E-05 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.851 | 0.080 | 6 | 41909351 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.200 | 2 | 208442425 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.160 | 9 | 69064942 | missense variant | G/C;T | snv | 3.6E-05; 2.8E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
6 | 0.882 | 6 | 30918851 | missense variant | C/G;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.120 | 2 | 32136593 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.120 | 16 | 3728852 | frameshift variant | GCTGGGTGAGA/- | del | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.040 | 8 | 41933963 | frameshift variant | CACT/- | delins | 0.700 | 0 | ||||||||
|
7 | 0.925 | 0.240 | 11 | 108326149 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
7 | 0.851 | 0.200 | 16 | 8806398 | missense variant | C/G;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.400 | 10 | 75025250 | splice donor variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
10 | 0.790 | 0.120 | 2 | 240783780 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 9 | 86266174 | missense variant | C/T | snv | 4.2E-06 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.882 | 0.160 | 16 | 89556976 | frameshift variant | G/- | del | 7.0E-06 | 0.700 | 0 | |||||||
|
14 | 0.807 | 0.360 | 16 | 74774623 | missense variant | C/A | snv | 7.0E-06 | 0.700 | 0 |