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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 3 | 9765858 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
1 | 1.000 | 0.040 | 1 | 39897382 | missense variant | G/C | snv | 0.89 | 0.91 | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||
|
72 | 0.570 | 0.560 | 7 | 55191821 | missense variant | CT/AG | mnv | 0.100 | 1.000 | 58 | 2005 | 2020 | |||||
|
72 | 0.570 | 0.560 | 7 | 55191822 | missense variant | TG/GT | mnv | 0.100 | 1.000 | 58 | 2005 | 2020 | |||||
|
73 | 0.568 | 0.560 | 7 | 55191822 | missense variant | T/A;G | snv | 0.100 | 1.000 | 58 | 2005 | 2020 | |||||
|
2 | 0.925 | 0.080 | 7 | 55174785 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 2 | 2005 | 2014 | ||||
|
58 | 0.597 | 0.560 | 5 | 177093242 | missense variant | G/A | snv | 0.33 | 0.26 | 0.020 | 1.000 | 2 | 2005 | 2009 | |||
|
1 | 1.000 | 0.040 | 4 | 65404419 | missense variant | C/T | snv | 0.800 | 1.000 | 1 | 2005 | 2005 | |||||
|
70 | 0.581 | 0.520 | 7 | 55181378 | missense variant | C/T | snv | 2.8E-05 | 5.6E-05 | 0.100 | 1.000 | 45 | 2006 | 2020 | |||
|
11 | 0.763 | 0.160 | 7 | 55181312 | missense variant | G/T | snv | 0.050 | 1.000 | 5 | 2006 | 2018 | |||||
|
9 | 0.790 | 0.120 | 7 | 55181312 | missense variant | GC/TT | mnv | 0.050 | 1.000 | 5 | 2006 | 2018 | |||||
|
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 |