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 | 0.100 | 0.882 | 68 | 1997 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.667 | 21 | 1999 | 2019 | |||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.100 | 0.857 | 14 | 2002 | 2019 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.100 | 0.846 | 13 | 1999 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.090 | 0.667 | 9 | 1997 | 2018 | |||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.060 | 0.833 | 6 | 2003 | 2018 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.060 | 1.000 | 6 | 2012 | 2019 | |||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.050 | 0.800 | 5 | 2003 | 2013 | |||||
|
16 | 0.724 | 0.400 | 11 | 49185773 | missense variant | G/A | snv | 4.1E-06 | 0.030 | 1.000 | 3 | 2003 | 2010 | ||||
|
45 | 0.620 | 0.560 | 17 | 18328782 | missense variant | G/A | snv | 0.27 | 0.31 | 0.030 | 1.000 | 3 | 2001 | 2017 | |||
|
16 | 0.708 | 0.480 | 5 | 79126136 | missense variant | G/A | snv | 0.30 | 0.28 | 0.030 | 0.667 | 3 | 2003 | 2018 | |||
|
9 | 0.790 | 0.320 | 11 | 49206785 | missense variant | C/G;T | snv | 0.020 | 1.000 | 2 | 2004 | 2010 | |||||
|
12 | 0.763 | 0.320 | 21 | 45534541 | synonymous variant | C/T | snv | 1.6E-05 | 2.8E-05 | 0.020 | 1.000 | 2 | 2004 | 2013 | |||
|
1 | 11 | 72196080 | missense variant | C/T | snv | 4.0E-05 | 5.6E-05 | 0.020 | 1.000 | 2 | 1999 | 2000 | |||||
|
11 | 0.763 | 0.240 | 22 | 19942598 | intron variant | A/G | snv | 0.23 | 0.020 | 1.000 | 2 | 2014 | 2015 | ||||
|
1 | 6 | 151013801 | missense variant | A/G | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 2006 | 2009 | ||||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2001 | 2003 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1 | 154157607 | 3 prime UTR variant | G/A | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||||
|
10 | 0.776 | 0.200 | 17 | 35004556 | 3 prime UTR variant | C/T | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.925 | 0.160 | 10 | 102604895 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 10 | 34202922 | intron variant | G/A | snv | 0.20 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 236884786 | intron variant | A/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 1 | 26725589 | intron variant | G/A | snv | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
1 | 6 | 49444720 | missense variant | C/G;T | snv | 0.32 | 0.010 | < 0.001 | 1 | 2003 | 2003 |