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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
5 | 0.827 | 0.040 | 15 | 37098156 | missense variant | A/C | snv | 1.3E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.030 | 1.000 | 3 | 2012 | 2016 | |||
|
42 | 0.605 | 0.600 | 6 | 43769749 | upstream gene variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
4 | 0.851 | 0.040 | 16 | 6910689 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.851 | 0.040 | 17 | 7673748 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
5 | 0.851 | 0.040 | 10 | 31510841 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
7 | 0.807 | 0.080 | 1 | 3732940 | missense variant | G/A | snv | 8.5E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.851 | 0.040 | 6 | 30889239 | missense variant | G/A | snv | 8.1E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
5 | 0.851 | 0.040 | 17 | 7673750 | frameshift variant | -/TTTCCGCCGG | delins | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
10 | 0.776 | 0.280 | 13 | 51944145 | missense variant | G/A;T | snv | 4.0E-06; 9.2E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
32 | 0.645 | 0.440 | 17 | 7674947 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
4 | 0.851 | 0.040 | 7 | 512435 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
7 | 0.827 | 0.040 | 12 | 57751680 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
6 | 0.807 | 0.080 | 1 | 3732781 | missense variant | G/A;T | snv | 8.6E-06; 4.3E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.732 | 0.160 | 21 | 31667356 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
11 | 0.742 | 0.200 | 22 | 43162920 | missense variant | A/G | snv | 0.76 | 0.75 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
6 | 0.807 | 0.080 | 11 | 65967703 | missense variant | G/C | snv | 0.46 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
6 | 0.827 | 0.080 | 2 | 47806213 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
21 | 0.701 | 0.360 | 20 | 63678486 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.040 | 6 | 31165582 | missense variant | T/A | snv | 5.0E-04 | 8.4E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
40 | 0.627 | 0.400 | 17 | 7673751 | missense variant | C/A;G;T | snv | 1.6E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
10 | 0.776 | 0.240 | 11 | 118606652 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
24 | 0.683 | 0.440 | 9 | 22068653 | intron variant | G/A | snv | 0.64 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
12 | 0.752 | 0.200 | 14 | 55138318 | missense variant | A/C | snv | 4.1E-06; 0.45 | 0.57 | 0.010 | 1.000 | 1 | 2019 | 2019 |