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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
13 | 0.827 | 0.280 | 5 | 157294834 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
12 | 0.882 | 0.280 | 16 | 16154638 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
11 | 0.851 | 0.280 | 16 | 16154974 | missense variant | G/A;T | snv | 1.9E-04; 5.4E-06 | 0.700 | 0 | |||||||
|
5 | 0.882 | 0.280 | 16 | 16157770 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
32 | 0.695 | 0.480 | 16 | 16163078 | stop gained | G/A | snv | 1.4E-03 | 1.2E-03 | 0.700 | 0 | ||||||
|
11 | 0.882 | 0.280 | 16 | 16163086 | missense variant | C/G;T | snv | 7.6E-05 | 0.700 | 0 | |||||||
|
13 | 0.851 | 0.320 | 16 | 16163110 | missense variant | G/A | snv | 6.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
9 | 0.882 | 0.280 | 16 | 16177622 | missense variant | C/T | snv | 2.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
9 | 0.882 | 0.280 | 16 | 16178961 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
16 | 0.807 | 0.320 | 16 | 16190246 | missense variant | C/T | snv | 8.4E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
6 | 0.882 | 0.280 | 16 | 16223398 | splice donor variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 5 | 177367190 | intron variant | G/A | snv | 0.34 | 0.040 | 1.000 | 4 | 2013 | 2019 | ||||
|
4 | 0.882 | 0.120 | 5 | 177371305 | intron variant | G/A | snv | 0.24 | 0.21 | 0.830 | 1.000 | 3 | 2012 | 2017 | |||
|
3 | 0.882 | 0.120 | 5 | 177387874 | splice donor variant | G/A | snv | 7.8E-05 | 4.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 5 | 177396762 | missense variant | G/C | snv | 2.8E-05 | 1.7E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
2 | 0.925 | 0.120 | 5 | 177397832 | missense variant | A/G | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.120 | 5 | 177398090 | missense variant | C/T | snv | 3.2E-05 | 2.8E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.120 | 2 | 182241913 | start lost | A/C | snv | 1.5E-03 | 5.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.851 | 0.240 | 4 | 186535189 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
6 | 0.827 | 0.320 | 4 | 186544404 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.200 | 3 | 190408416 | missense variant | T/G | snv | 0.700 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.827 | 0.200 | 16 | 20353266 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 1 | 21570274 | intron variant | C/T | snv | 0.16 | 0.14 | 0.020 | 1.000 | 2 | 2018 | 2019 | |||
|
2 | 0.925 | 0.120 | 1 | 21577539 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
44 | 0.611 | 0.720 | 22 | 23894205 | intron variant | G/C | snv | 0.26 | 0.010 | 1.000 | 1 | 2016 | 2016 |