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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.160 | 12 | 112446385 | missense variant | A/G | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||
|
6 | 0.807 | 0.240 | 12 | 112450354 | missense variant | C/A;G | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||
|
9 | 0.807 | 0.240 | 12 | 112450359 | missense variant | G/C;T | snv | 0.800 | 1.000 | 2 | 2010 | 2014 | |||||
|
3 | 0.882 | 0.240 | 12 | 112450385 | missense variant | G/A;C | snv | 0.700 | 1.000 | 17 | 2001 | 2017 | |||||
|
2 | 0.925 | 0.160 | 12 | 112472968 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 17 | 2001 | 2017 | ||||
|
1 | 1.000 | 0.160 | 12 | 112472972 | missense variant | T/A;G | snv | 0.700 | 1.000 | 17 | 2001 | 2017 | |||||
|
5 | 0.851 | 0.160 | 12 | 112473031 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 17 | 2001 | 2017 | ||||
|
2 | 0.925 | 0.160 | 12 | 112489078 | missense variant | G/A | snv | 0.700 | 1.000 | 17 | 2001 | 2017 | |||||
|
1 | 1.000 | 0.160 | 12 | 112477722 | missense variant | A/G | snv | 5.0E-04 | 2.5E-04 | 0.700 | 1.000 | 15 | 2001 | 2017 | |||
|
1 | 1.000 | 0.160 | 12 | 112502222 | missense variant | C/T | snv | 4.0E-05 | 7.0E-05 | 0.700 | 1.000 | 15 | 2001 | 2017 | |||
|
1 | 1.000 | 0.160 | 12 | 112450355 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 15 | 2001 | 2017 | |||
|
24 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2017 | |||
|
2 | 0.925 | 0.160 | 14 | 50161551 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
48 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.280 | 11 | 14294844 | missense variant | T/A;C | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.280 | 15 | 66436843 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.200 | 2 | 39051211 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
16 | 0.752 | 0.240 | 2 | 39022774 | missense variant | T/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.160 | 1 | 155910693 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 7 | 140801536 | missense variant | C/G | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.280 | 7 | 140749365 | missense variant | A/C;T | snv | 0.700 | 0 |