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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.100 | 0.857 | 21 | 2003 | 2019 | |||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.070 | 1.000 | 7 | 2007 | 2017 | |||||
|
33 | 0.637 | 0.520 | 21 | 45530890 | missense variant | G/A | snv | 0.040 | 0.750 | 4 | 2006 | 2013 | |||||
|
2 | 0.925 | 0.120 | 10 | 34275364 | intron variant | G/A | snv | 0.42 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 21 | 38824464 | 3 prime UTR variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.807 | 0.320 | 17 | 17583205 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 0.925 | 0.120 | 7 | 19117256 | synonymous variant | T/C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.790 | 0.320 | 19 | 17193427 | intron variant | C/A | snv | 0.44 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 0.925 | 0.120 | 7 | 78629694 | intron variant | C/T | snv | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
15 | 0.752 | 0.400 | 20 | 32779273 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
43 | 0.605 | 0.800 | 7 | 22726602 | non coding transcript exon variant | A/G | snv | 0.72 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 0.925 | 0.120 | 21 | 45531476 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
2 | 0.925 | 0.120 | 21 | 38822292 | intron variant | C/T | snv | 0.35 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
8 | 0.790 | 0.240 | 10 | 43086608 | intron variant | T/C | snv | 0.79 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.160 | 10 | 43086825 | intron variant | A/C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.827 | 0.280 | 21 | 43058192 | stop gained | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
22 | 0.701 | 0.360 | 21 | 43063074 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
17 | 0.716 | 0.360 | 21 | 25891784 | missense variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
3 | 0.925 | 0.120 | 7 | 78174806 | intron variant | A/G | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
4 | 0.851 | 0.200 | 21 | 38823135 | 3 prime UTR variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 0.882 | 0.160 | 21 | 36073015 | 3 prime UTR variant | G/A | snv | 9.7E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 0.925 | 0.120 | 7 | 78366115 | intron variant | A/C | snv | 0.58 | 0.010 | 1.000 | 1 | 2010 | 2010 |