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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 1.000 | 11 | 18033757 | intron variant | T/G | snv | 0.19 | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
15 | 0.763 | 0.360 | 12 | 20858546 | missense variant | T/C;G | snv | 0.81 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
45 | 0.633 | 0.480 | 12 | 21178615 | missense variant | T/C | snv | 0.13 | 0.12 | 0.030 | 1.000 | 3 | 2016 | 2017 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
8 | 0.851 | 0.120 | 2 | 233757013 | intron variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
9 | 0.851 | 0.120 | 1 | 97082391 | missense variant | T/A | snv | 2.8E-03 | 3.3E-03 | 0.020 | 1.000 | 2 | 2014 | 2015 | |||
|
8 | 0.827 | 0.280 | 17 | 80210679 | stop gained | GGAGGTCCTTG/- | del | 0.700 | 0 | ||||||||
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.925 | 0.040 | 6 | 160139849 | inframe deletion | GAT/- | delins | 0.15 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 5 | 80781309 | intron variant | G/T | snv | 0.13 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.030 | 1.000 | 3 | 2006 | 2019 | ||||
|
73 | 0.641 | 0.560 | 17 | 75489265 | splice acceptor variant | G/C | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 16 | 55810697 | intron variant | G/A;T | snv | 8.0E-06; 0.73 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.020 | 0.500 | 2 | 2010 | 2010 | ||||
|
4 | 0.882 | 0.080 | 3 | 124737895 | missense variant | G/A;C | snv | 4.0E-06; 0.19 | 0.020 | 1.000 | 2 | 2006 | 2011 | ||||
|
23 | 0.667 | 0.560 | 18 | 671384 | missense variant | G/A;C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 4 | 69108277 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 1 | 11790755 | synonymous variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 7 | 87601021 | 5 prime UTR variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 5 | 80764197 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 14 | 103708630 | missense variant | G/A | snv | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
19 | 0.742 | 0.280 | 19 | 48703417 | stop gained | G/A | snv | 0.38 | 0.45 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.827 | 0.160 | 12 | 20862826 | missense variant | G/A | snv | 0.81 | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 |