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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
4 | 0.882 | 0.080 | 1 | 147760632 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
11 | 0.807 | 0.200 | 1 | 26767868 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
16 | 0.776 | 0.360 | 1 | 155904470 | stop lost | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.200 | 2 | 39051202 | missense variant | A/C;G | snv | 0.700 | 1.000 | 5 | 2007 | 2011 | |||||
|
4 | 0.882 | 0.120 | 2 | 47073816 | stop gained | C/T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
1 | 2 | 135910326 | intron variant | C/T | snv | 0.18 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 135956608 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||||
|
1 | 2 | 135985602 | 5 prime UTR variant | C/T | snv | 2.8E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
37 | 0.667 | 0.480 | 3 | 12604200 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2007 | 2007 | ||||
|
4 | 0.882 | 0.200 | 3 | 30602723 | upstream gene variant | G/A | snv | 0.84 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 4 | 5783715 | missense variant | G/A;T | snv | 0.35; 2.4E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.925 | 0.080 | 4 | 110618487 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 4 | 5729349 | missense variant | C/G;T | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
6 | 0.851 | 0.240 | 4 | 78511299 | missense variant | G/A | snv | 5.2E-03 | 5.8E-03 | 0.700 | 0 | ||||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.020 | 1.000 | 2 | 2017 | 2019 | |||
|
6 | 5 | 150228191 | splice donor variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
12 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
13 | 0.752 | 0.160 | 5 | 173235021 | synonymous variant | T/C | snv | 0.41 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 5 | 51383180 | non coding transcript exon variant | A/G | snv | 0.15 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
3 | 0.925 | 0.080 | 5 | 173234909 | missense variant | G/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 1.000 | 0.080 | 5 | 173232775 | missense variant | G/A;C;T | snv | 4.2E-06; 8.4E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 5 | 173232508 | 3 prime UTR variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2016 | 2016 |