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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | 112472969 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 12 | 112472972 | missense variant | T/A;G | snv | 0.700 | 1.000 | 17 | 2001 | 2017 | |||||
|
4 | 0.851 | 0.200 | 12 | 112472981 | missense variant | G/A;T | snv | 3.2E-05 | 3.5E-05 | 0.800 | 1.000 | 2 | 2010 | 2014 | |||
|
13 | 0.752 | 0.280 | 12 | 112473023 | missense variant | A/C;G | snv | 0.800 | 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 | ||||
|
18 | 0.752 | 0.320 | 12 | 112473040 | missense variant | T/C;G | snv | 0.800 | 1.000 | 15 | 2001 | 2017 | |||||
|
6 | 0.851 | 0.240 | 12 | 112477651 | missense variant | T/A;C;G | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | |||||
|
15 | 0.752 | 0.400 | 12 | 112477719 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.800 | 1.000 | 35 | 2001 | 2018 | |||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.800 | 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 | |||
|
23 | 0.807 | 0.280 | 12 | 112486482 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 0.800 | 1.000 | 17 | 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 | |||
|
8 | 0.851 | 0.160 | 12 | 112489047 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 17 | 2001 | 2017 | ||||
|
8 | 0.851 | 0.160 | 12 | 112489048 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.160 | 12 | 112489068 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
9 | 0.790 | 0.320 | 12 | 112489069 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.160 | 12 | 112489078 | missense variant | G/A | snv | 0.700 | 1.000 | 17 | 2001 | 2017 | |||||
|
8 | 0.807 | 0.320 | 12 | 112489080 | missense variant | T/A;G | snv | 0.800 | 1.000 | 17 | 2001 | 2017 | |||||
|
20 | 0.708 | 0.560 | 12 | 112489083 | missense variant | G/A;C | snv | 4.0E-06 | 0.800 | 1.000 | 17 | 2001 | 2017 | ||||
|
14 | 0.752 | 0.280 | 12 | 112489086 | missense variant | A/G | snv | 4.0E-06 | 0.800 | 1.000 | 18 | 2001 | 2019 | ||||
|
13 | 0.742 | 0.240 | 12 | 112489104 | missense variant | C/A;G | snv | 0.800 | 1.000 | 21 | 2001 | 2017 | |||||
|
10 | 0.790 | 0.160 | 12 | 112489105 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
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 | |||
|
4 | 0.882 | 0.160 | 1 | 114713911 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 |