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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.040 | 3 | 195867623 | missense variant | C/T | snv | 1.4E-02 | 1.1E-02 | 0.700 | 0 | ||||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 0.889 | 27 | 1996 | 2019 | |||
|
5 | 0.827 | 0.240 | 11 | 2169721 | missense variant | C/T | snv | 0.43 | 0.32 | 0.040 | 0.500 | 4 | 1996 | 2018 | |||
|
59 | 0.614 | 0.360 | 4 | 89828149 | missense variant | C/T | snv | 0.100 | 0.980 | 153 | 1997 | 2020 | |||||
|
21 | 0.732 | 0.160 | 4 | 89835580 | missense variant | C/G | snv | 0.100 | 0.957 | 70 | 1998 | 2019 | |||||
|
5 | 0.925 | 0.040 | 11 | 2167896 | missense variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
1 | 1.000 | 0.040 | 18 | 9117869 | missense variant | T/C;G | snv | 0.80; 4.0E-06 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
6 | 0.827 | 0.120 | 4 | 41260751 | missense variant | C/A;G;T | snv | 4.0E-05; 4.0E-06; 2.0E-05 | 0.100 | 1.000 | 11 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.040 | 10 | 86958785 | missense variant | G/C | snv | 0.080 | 1.000 | 8 | 1999 | 2018 | |||||
|
4 | 0.851 | 0.080 | 6 | 162201165 | missense variant | C/T | snv | 7.1E-02 | 5.3E-02 | 0.050 | 1.000 | 5 | 1999 | 2020 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2010 | ||||
|
15 | 0.724 | 0.280 | 6 | 159688224 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
3 | 0.882 | 0.120 | 3 | 39412034 | missense variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | < 0.001 | 1 | 1999 | 1999 | |||
|
10 | 0.790 | 0.160 | 4 | 41257616 | missense variant | C/A | snv | 0.24 | 0.16 | 0.100 | 0.926 | 27 | 2000 | 2017 | |||
|
7 | 0.851 | 0.160 | 20 | 4699466 | synonymous variant | A/G;T | snv | 4.0E-06; 1.4E-04 | 0.060 | 1.000 | 6 | 2000 | 2019 | ||||
|
5 | 0.827 | 0.240 | 7 | 2249951 | missense variant | G/A | snv | 2.2E-02 | 1.8E-02 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
1 | 1.000 | 0.040 | 6 | 161386865 | missense variant | G/A | snv | 2.8E-04 | 1.2E-04 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.040 | 5 | 122425421 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
4 | 0.882 | 0.120 | 4 | 9783007 | synonymous variant | C/T | snv | 0.64 | 0.64 | 0.010 | < 0.001 | 1 | 2001 | 2001 | |||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.833 | 30 | 2002 | 2020 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.821 | 28 | 2002 | 2019 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.070 | 0.571 | 7 | 2002 | 2016 | |||
|
4 | 0.851 | 0.040 | 6 | 161360193 | missense variant | C/T | snv | 2.5E-02 | 2.5E-02 | 0.020 | 1.000 | 2 | 2002 | 2010 | |||
|
8 | 0.776 | 0.200 | 12 | 13564574 | synonymous variant | G/A | snv | 0.32 | 0.24 | 0.020 | 1.000 | 2 | 2002 | 2010 | |||
|
2 | 0.925 | 0.120 | MT | 15497 | missense variant | G/A | snv | 0.020 | 1.000 | 2 | 2002 | 2002 |