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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.200 | 12 | 112472981 | missense variant | G/A;T | snv | 3.2E-05 | 3.5E-05 | 0.800 | 1.000 | 0 | 2010 | 2014 | |||
|
2 | 0.882 | 0.160 | 1 | 114713911 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.701 | 0.280 | 12 | 112488466 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 5 | 2002 | 2017 | |||
|
14 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 19 | 2001 | 2018 | |||
|
4 | 0.827 | 0.160 | 12 | 112489068 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
46 | 0.662 | 0.440 | 12 | 112450368 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 0 | 2001 | 2017 | |||
|
2 | 0.925 | 0.160 | 12 | 112450346 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
8 | 0.742 | 0.320 | 12 | 112450398 | missense variant | C/T | snv | 0.800 | 1.000 | 21 | 2001 | 2017 | |||||
|
6 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.800 | 1.000 | 5 | 2001 | 2017 | |||||
|
14 | 0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 1 | 2001 | 2019 | ||||
|
2 | 0.925 | 0.160 | 14 | 50161551 | missense variant | G/C | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
30 | 0.605 | 0.560 | 11 | 534286 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
2 | 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 | |||||||
|
8 | 0.790 | 0.280 | 7 | 140753346 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
15 | 0.732 | 0.280 | 12 | 112450394 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 0 | 2001 | 2017 | |||||
|
16 | 0.742 | 0.280 | 12 | 112450395 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 0 | 2001 | 2017 | |||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.800 | 1.000 | 0 | 2001 | 2017 | |||||
|
11 | 0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv | 0.800 | 1.000 | 0 | 2001 | 2017 | |||||
|
8 | 0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv | 0.800 | 1.000 | 0 | 2001 | 2017 | |||||
|
27 | 0.708 | 0.400 | 12 | 112450364 | missense variant | T/A;G | snv | 4.0E-06 | 0.800 | 1.000 | 0 | 2001 | 2017 | ||||
|
8 | 0.827 | 0.240 | 12 | 112450362 | missense variant | A/C;G;T | snv | 0.800 | 1.000 | 0 | 2001 | 2017 | |||||
|
6 | 0.851 | 0.240 | 12 | 112477651 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 0 | 2001 | 2017 | |||||
|
7 | 0.708 | 0.440 | 12 | 112450406 | missense variant | G/A;C | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.280 | 12 | 112450416 | missense variant | A/G | snv | 0.800 | 1.000 | 0 | 2001 | 2017 |