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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
27 | 0.658 | 0.360 | 17 | 39727784 | missense variant | C/G | snv | 0.61 | 0.52 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
1 | 1.000 | 0.080 | 15 | 85581324 | missense variant | G/A;C | snv | 0.61; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
18 | 0.708 | 0.320 | 17 | 43092919 | missense variant | G/A;C;T | snv | 0.40; 1.6E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 0.030 | 1.000 | 3 | 2006 | 2006 | ||||
|
4 | 0.851 | 0.120 | 7 | 92001306 | missense variant | G/T | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
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 | ||||
|
7 | 0.807 | 0.200 | 17 | 19909228 | missense variant | T/C | snv | 0.37 | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 0.882 | 0.080 | 7 | 92083384 | missense variant | A/G | snv | 0.36 | 0.34 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.080 | 17 | 43082453 | synonymous variant | A/G | snv | 0.35 | 0.30 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
5 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.160 | 17 | 43044391 | 3 prime UTR variant | G/A | snv | 0.34 | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
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 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
30 | 0.658 | 0.440 | 16 | 28606193 | missense variant | C/T | snv | 0.22 | 0.30 | 0.010 | < 0.001 | 1 | 2010 | 2010 | |||
|
1 | 1.000 | 0.080 | 15 | 85735078 | missense variant | G/A | snv | 0.22 | 0.19 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 16 | 23634870 | missense variant | T/A;C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-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 |