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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | 11 | 108257484 | missense variant | C/G;T | snv | 0.010 | < 0.001 | 1 | 2008 | 2008 | |||||
|
12 | 0.763 | 0.320 | 11 | 108329202 | missense variant | T/G | snv | 4.0E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
2 | 1.000 | 0.080 | 6 | 109185258 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 1 | 109690557 | missense variant | G/A | snv | 1.9E-04 | 6.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
19 | 0.695 | 0.280 | 10 | 121575416 | intron variant | G/A;T | snv | 0.34 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
4 | 0.851 | 0.160 | 10 | 121591810 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
21 | 0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.882 | 0.080 | 8 | 127738294 | missense variant | A/C;G | snv | 1.6E-05; 2.3E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.280 | MT | 13708 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
46 | 0.623 | 0.560 | 19 | 13836478 | non coding transcript exon variant | T/A;C;G | snv | 0.34 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
37 | 0.620 | 0.440 | 7 | 152648922 | missense variant | C/G;T | snv | 4.0E-06; 6.4E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 5 | 176968697 | missense variant | A/G | snv | 7.3E-04 | 7.3E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.807 | 0.200 | 17 | 19909228 | missense variant | T/C | snv | 0.37 | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.807 | 0.200 | 17 | 19909228 | missense variant | TG/CA | mnv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
10 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
11 | 0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
3 | 0.882 | 0.080 | 2 | 214767531 | missense variant | C/A;T | snv | 1.6E-05; 0.37 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.080 | 2 | 214767531 | missense variant | CA/AG;TG | mnv | 0.010 | 1.000 | 1 | 2006 | 2006 |