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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 17 | 46024073 | missense variant | A/C | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.851 | 0.160 | 17 | 45846317 | missense variant | A/G | snv | 0.15 | 0.14 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
7 | 0.851 | 0.160 | 17 | 45641777 | non coding transcript exon variant | A/G | snv | 0.18 | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
24 | 0.708 | 0.120 | 12 | 40310434 | missense variant | C/A;G;T | snv | 4.0E-06; 1.2E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
30 | 0.677 | 0.240 | 17 | 46024061 | missense variant | C/T | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
16 | 0.776 | 0.120 | 17 | 46010388 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 0.925 | 0.080 | 8 | 29296260 | intergenic variant | C/T | snv | 0.73 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.040 | 12 | 40321138 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
12 | 0.752 | 0.200 | 17 | 45942346 | intron variant | G/A | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
10 | 0.763 | 0.280 | 12 | 117330794 | synonymous variant | G/A | snv | 2.8E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
17 | 0.724 | 0.240 | 17 | 45991484 | missense variant | G/A;T | snv | 1.5E-03; 1.2E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
4 | 0.851 | 0.200 | 3 | 39481512 | intron variant | T/C | snv | 0.76 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
6 | 0.882 | 0.080 | 17 | 46024197 | 3 prime UTR variant | T/C | snv | 0.15 | 0.14 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 2 | 38989732 | intron variant | T/C | snv | 0.90 | 0.700 | 1.000 | 1 | 2015 | 2015 |