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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
63 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.880 | 1.000 | 8 | 2011 | 2019 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.800 | 0.963 | 27 | 2003 | 2019 | ||||
|
43 | 0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 | 0.800 | 0.952 | 21 | 2008 | 2018 | |||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.800 | 1.000 | 19 | 2010 | 2015 | ||||
|
24 | 0.695 | 0.440 | 15 | 78513681 | intron variant | T/C | snv | 0.27 | 0.800 | 0.833 | 18 | 2008 | 2017 | ||||
|
42 | 0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 | 0.800 | 1.000 | 16 | 2008 | 2018 | ||||
|
144 | 0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 0.933 | 15 | 2010 | 2019 | ||||
|
9 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 13 | 2002 | 2014 | ||||
|
1 | 1.000 | 0.080 | 11 | 2918030 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 5 | 2013 | 2014 | ||||
|
14 | 0.716 | 0.440 | 6 | 31652743 | intron variant | T/G | snv | 7.1E-02 | 0.760 | 1.000 | 7 | 2008 | 2017 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.750 | 1.000 | 16 | 2002 | 2018 | ||||
|
43 | 0.608 | 0.360 | 13 | 32398489 | stop gained | A/T | snv | 6.6E-03 | 6.0E-03 | 0.750 | 0.857 | 7 | 2014 | 2018 | |||
|
5 | 0.827 | 0.080 | 3 | 189638472 | intron variant | T/C | snv | 0.45 | 0.750 | 1.000 | 7 | 2011 | 2019 | ||||
|
19 | 0.724 | 0.240 | 5 | 1287079 | 3 prime UTR variant | G/A | snv | 0.63 | 0.740 | 1.000 | 4 | 2016 | 2019 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.730 | 1.000 | 4 | 2008 | 2016 | ||||
|
9 | 0.763 | 0.160 | 10 | 112738717 | intron variant | G/A | snv | 0.20 | 0.720 | 1.000 | 3 | 2012 | 2018 | ||||
|
10 | 0.752 | 0.200 | 6 | 161785820 | missense variant | G/A;T | snv | 1.9E-03; 8.0E-06 | 0.720 | 0.500 | 2 | 2015 | 2020 | ||||
|
12 | 0.763 | 0.320 | 5 | 1315545 | downstream gene variant | G/A | snv | 0.51 | 0.720 | 1.000 | 2 | 2009 | 2010 | ||||
|
9 | 0.776 | 0.120 | 13 | 23719720 | regulatory region variant | A/G | snv | 0.50 | 0.720 | 1.000 | 2 | 2011 | 2019 | ||||
|
8 | 0.776 | 0.200 | 5 | 1320132 | intron variant | G/A | snv | 0.47 | 0.710 | 1.000 | 3 | 2014 | 2019 | ||||
|
11 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 0.710 | 1.000 | 2 | 2004 | 2015 | |||||
|
17 | 0.724 | 0.360 | 6 | 32465390 | intron variant | G/T | snv | 0.29 | 0.710 | 1.000 | 2 | 2012 | 2019 | ||||
|
92 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 0.710 | 1.000 | 2 | 2015 | 2016 | ||||
|
10 | 0.807 | 0.080 | 19 | 40847202 | intron variant | T/C | snv | 0.52 | 0.710 | 1.000 | 2 | 2016 | 2017 | ||||
|
3 | 0.882 | 0.080 | 2 | 173118476 | intron variant | A/C;G;T | snv | 0.710 | 1.000 | 2 | 2017 | 2018 |