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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.050 | 1.000 | 5 | 2008 | 2019 | ||||
|
28 | 0.662 | 0.440 | 3 | 37012077 | missense variant | A/C;G;T | snv | 0.23 | 0.040 | 0.750 | 4 | 2010 | 2017 | ||||
|
25 | 0.677 | 0.280 | 3 | 37020356 | missense variant | A/G | snv | 4.0E-06 | 0.040 | 0.750 | 4 | 2011 | 2013 | ||||
|
10 | 0.790 | 0.160 | 3 | 37014530 | missense variant | T/C | snv | 2.0E-05 | 0.030 | 0.667 | 3 | 2007 | 2013 | ||||
|
17 | 0.716 | 0.200 | 3 | 37025749 | missense variant | T/A | snv | 2.7E-03 | 7.5E-04 | 0.030 | 1.000 | 3 | 2013 | 2017 | |||
|
8 | 0.925 | 0.200 | 3 | 36993548 | start lost | A/C;G | snv | 0.020 | 0.500 | 2 | 2009 | 2015 | |||||
|
5 | 1.000 | 0.120 | 3 | 37001037 | start lost | A/G | snv | 2.4E-04 | 3.5E-05 | 0.020 | 0.500 | 2 | 2009 | 2015 | |||
|
6 | 0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
8 | 0.827 | 0.160 | 3 | 37047639 | missense variant | AA/GC | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.882 | 0.080 | 3 | 37012071 | missense variant | C/A;T | snv | 3.7E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.160 | 3 | 37040291 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
5 | 0.925 | 0.200 | 3 | 37020441 | frameshift variant | C/- | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.160 | 3 | 37047550 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.851 | 0.200 | 3 | 37048562 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
5 | 0.851 | 0.160 | 3 | 37048578 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 0.160 | 3 | 37048919 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 |