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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
20 | 0.752 | 0.400 | 17 | 67854315 | frameshift variant | T/- | del | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.040 | 1 | 220143109 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.882 | 0.080 | 21 | 45509554 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
19 | 0.763 | 0.240 | 14 | 102002950 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.160 | 20 | 25339294 | stop gained | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.120 | 8 | 31068328 | splice donor variant | G/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.120 | 3 | 129532727 | missense variant | C/G;T | snv | 9.7E-04 | 4.1E-04 | 0.700 | 0 | ||||||
|
6 | 0.851 | 0.120 | 17 | 50360241 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
12 | 0.851 | 0.240 | 9 | 134701287 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 19 | 51380577 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
8 | 0.827 | 0.160 | 11 | 8100575 | frameshift variant | AGAG/-;AG | delins | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 21 | 45477409 | splice acceptor variant | A/G | snv | 8.2E-06 | 2.8E-05 | 0.700 | 0 | ||||||
|
15 | 0.790 | 0.360 | 10 | 95637327 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.200 | 2 | 208124291 | frameshift variant | TGGG/- | del | 0.060 | 1.000 | 6 | 2005 | 2019 | |||||
|
6 | 0.807 | 0.200 | 2 | 208124294 | missense variant | G/A;T | snv | 4.2E-06; 1.3E-05 | 0.060 | 1.000 | 6 | 2005 | 2019 | ||||
|
12 | 0.763 | 0.280 | 11 | 111908934 | missense variant | T/C | snv | 0.040 | 1.000 | 4 | 2011 | 2019 | |||||
|
3 | 0.925 | 0.040 | 2 | 208124188 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2005 | 2018 | |||||
|
15 | 0.716 | 0.360 | 15 | 73929861 | intron variant | T/C | snv | 0.60 | 0.030 | 1.000 | 3 | 2008 | 2015 | ||||
|
3 | 0.882 | 0.040 | 13 | 20142862 | missense variant | C/T | snv | 0.030 | 1.000 | 3 | 2012 | 2018 | |||||
|
5 | 0.827 | 0.040 | 3 | 186539566 | missense variant | C/A | snv | 0.020 | 1.000 | 2 | 2009 | 2016 | |||||
|
8 | 0.807 | 0.240 | 11 | 111908832 | missense variant | C/T | snv | 9.1E-04 | 8.7E-04 | 0.020 | 1.000 | 2 | 2010 | 2017 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
15 | 0.716 | 0.320 | 15 | 73927241 | missense variant | G/A;C;T | snv | 0.18; 4.5E-06 | 0.020 | 1.000 | 2 | 2008 | 2015 | ||||
|
3 | 0.882 | 0.040 | 21 | 43170619 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2006 | 2019 | |||||
|
1 | 1.000 | 0.040 | 1 | 16113897 | regulatory region variant | C/A;G;T | snv | 0.020 | 1.000 | 2 | 2012 | 2016 |