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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.020 | 0.500 | 2 | 2002 | 2006 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 12 | 25158555 | missense variant | G/A;T | snv | 2.8E-04; 0.33 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.160 | 7 | 55174818 | missense variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
2 | 1.000 | 0.040 | 1 | 224434068 | missense variant | C/T | snv | 1.5E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.080 | 7 | 55181314 | missense variant | G/A;C;T | snv | 2.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 11 | 67396157 | missense variant | A/G | snv | 4.8E-03 | 1.4E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 1.000 | 0.040 | 12 | 25090181 | missense variant | G/A;C | snv | 0.54 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
12 | 0.763 | 0.280 | 3 | 50332115 | missense variant | C/A | snv | 9.6E-02 | 8.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.120 | 4 | 54731930 | missense variant | G/T | snv | 4.0E-06 | 3.5E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.851 | 0.080 | 12 | 25149651 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
5 | 0.851 | 0.080 | 12 | 25089661 | missense variant | C/A;G | snv | 1.6E-05; 0.75 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.040 | 12 | 26120155 | 3 prime UTR variant | C/G | snv | 0.48 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 19 | 1220630 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 12 | 26122622 | missense variant | G/A | snv | 0.53 | 0.38 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
5 | 0.882 | 0.160 | 19 | 1220488 | missense variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2007 | 2007 | |||||
|
1 | 1.000 | 0.040 | 12 | 26069812 | 3 prime UTR variant | A/C | snv | 0.76 | 0.010 | < 0.001 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.040 | 1 | 39850216 | missense variant | A/T | snv | 0.11 | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.030 | 1.000 | 3 | 2002 | 2008 | |||
|
58 | 0.581 | 0.680 | 2 | 38071060 | missense variant | G/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
8 | 0.827 | 0.080 | 7 | 55191776 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
2 | 1.000 | 0.040 | 4 | 94575722 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
2 | 0.925 | 0.080 | 15 | 78450412 | intron variant | C/A;G | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
8 | 0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 | 0.700 | 1.000 | 1 | 2009 | 2009 |