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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
24 | 0.716 | 0.200 | 11 | 113412762 | missense variant | G/C | snv | 2.7E-02 | 1.8E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.040 | 1.000 | 4 | 1999 | 2009 | |||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
2 | 1.000 | 0.040 | 4 | 6301470 | missense variant | G/A;T | snv | 4.0E-03 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
9 | 0.807 | 0.120 | 5 | 1403013 | missense variant | G/A | snv | 5.3E-04 | 5.8E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
42 | 0.623 | 0.520 | X | 114731326 | missense variant | C/G;T | snv | 0.040 | 1.000 | 4 | 2001 | 2018 | |||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.030 | 1.000 | 3 | 2001 | 2002 | |||
|
17 | 0.724 | 0.480 | 22 | 19963746 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
1 | 16 | 3983435 | missense variant | T/A;C | snv | 4.4E-06; 0.29 | 0.010 | < 0.001 | 1 | 2002 | 2002 | ||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.962 | 26 | 2003 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.957 | 23 | 2003 | 2019 | ||||
|
1 | 6 | 31116450 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2003 | 2003 | |||
|
10 | 0.790 | 0.240 | 4 | 6301627 | missense variant | G/A | snv | 0.55 | 0.42 | 0.030 | 0.667 | 3 | 2005 | 2015 | |||
|
1 | 17 | 44383518 | synonymous variant | G/A;T | snv | 6.5E-05; 4.1E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 4 | 6300980 | stop gained | C/G;T | snv | 0.63 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||||
|
1 | 4 | 6291969 | synonymous variant | C/G | snv | 0.72 | 0.68 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2013 | ||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
6 | 0.851 | 0.200 | 7 | 87601024 | 5 prime UTR variant | A/G | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
12 | 0.763 | 0.440 | 7 | 87536472 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.040 | 0.500 | 4 | 2008 | 2015 | |||
|
1 | 12 | 71930591 | downstream gene variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.090 | 0.889 | 9 | 2009 | 2019 | |||
|
6 | 0.925 | 0.080 | 11 | 27728178 | intron variant | T/C | snv | 0.37 | 0.010 | 1.000 | 1 | 2009 | 2009 |