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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 1.000 | 6 | 2000 | 2010 | |||||
|
7 | 0.807 | 0.160 | 3 | 41225049 | stop gained | C/T | snv | 0.700 | 1.000 | 3 | 1989 | 2017 | |||||
|
4 | 0.882 | 0.120 | 2 | 32137172 | missense variant | G/C;T | snv | 0.700 | 0 | ||||||||
|
9 | 0.807 | 0.160 | X | 19353124 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
31 | 0.695 | 0.440 | 12 | 112477720 | missense variant | A/C;G | snv | 0.700 | 0 | ||||||||
|
40 | 0.716 | 0.240 | 14 | 77027231 | stop gained | G/A;T | snv | 4.3E-06 | 0.700 | 0 | |||||||
|
26 | 0.752 | 0.240 | 6 | 87260207 | missense variant | A/C | snv | 0.700 | 0 | ||||||||
|
14 | 0.827 | 0.200 | 12 | 116007542 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 13 | 110176912 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
18 | 0.827 | 0.200 | 14 | 77027274 | stop gained | G/C | snv | 0.700 | 0 | ||||||||
|
22 | 0.752 | 0.320 | 16 | 8811153 | missense variant | G/A | snv | 4.1E-03 | 3.7E-03 | 0.700 | 0 | ||||||
|
4 | 0.882 | 0.040 | 10 | 110122249 | missense variant | G/A | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
18 | 0.827 | 0.240 | 19 | 41970539 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
17 | 0.732 | 0.200 | X | 154031065 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.807 | 0.120 | 1 | 29200513 | splice donor variant | -/A | delins | 1.4E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
3 | 0.925 | 0.120 | 19 | 6495736 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
44 | 0.701 | 0.600 | 13 | 23886338 | missense variant | C/G;T | snv | 4.8E-06; 9.6E-06 | 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 | |||||||
|
3 | 0.882 | 0.240 | 16 | 8797949 | splice donor variant | G/T | snv | 1.4E-05 | 7.0E-06 | 0.700 | 0 | ||||||
|
10 | 0.790 | 0.360 | 1 | 11792243 | intron variant | C/G;T | snv | 4.0E-06; 0.26 | 0.23 | 0.020 | 1.000 | 2 | 2011 | 2016 | |||
|
140 | 0.494 | 0.840 | 7 | 22727026 | intron variant | C/G | snv | 0.71 | 0.020 | 1.000 | 2 | 2011 | 2013 | ||||
|
33 | 0.641 | 0.680 | 11 | 34438684 | upstream gene variant | C/T | snv | 0.16 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 0.925 | 0.080 | 21 | 33026408 | 5 prime UTR variant | C/T | snv | 0.73 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
54 | 0.597 | 0.640 | 5 | 148826910 | stop gained | G/C;T | snv | 0.68 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
2 | 1.000 | 0.040 | 12 | 120691123 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2018 | 2018 |