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 | 20 | 49511026 | splice donor variant | A/G | snv | 3.6E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.827 | 0.200 | 16 | 20354332 | intron variant | A/G | snv | 0.23 | 0.700 | 0 | |||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.795 | 39 | 1993 | 2014 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.100 | 0.846 | 13 | 1994 | 2014 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.090 | 0.667 | 9 | 1994 | 2015 | |||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.020 | 0.500 | 2 | 1994 | 2018 | |||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.100 | 0.947 | 19 | 1997 | 2017 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.895 | 19 | 1998 | 2017 | ||||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.030 | 1.000 | 3 | 1998 | 1999 | |||
|
5 | 0.882 | 0.120 | 2 | 162147429 | missense variant | T/C | snv | 1.4E-05 | 0.020 | 1.000 | 2 | 1998 | 1999 | ||||
|
1 | 1.000 | 0.040 | 17 | 63496923 | missense variant | C/G;T | snv | 2.4E-05; 3.2E-04 | 0.020 | 1.000 | 2 | 1998 | 2004 | ||||
|
16 | 0.742 | 0.320 | 22 | 24441333 | synonymous variant | T/C | snv | 0.54 | 0.52 | 0.010 | < 0.001 | 1 | 1998 | 1998 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.100 | 0.864 | 22 | 1999 | 2017 | |||
|
7 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 1999 | 2007 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.030 | 1.000 | 3 | 1999 | 2018 | |||
|
4 | 0.882 | 0.120 | 17 | 63497280 | missense variant | C/T | snv | 4.5E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
2 | 1.000 | 0.040 | 16 | 67436012 | synonymous variant | G/A | snv | 3.1E-02 | 2.9E-02 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.020 | 1.000 | 2 | 2001 | 2007 | |||
|
16 | 0.742 | 0.400 | 19 | 11116926 | synonymous variant | C/T | snv | 0.39 | 0.34 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
2 | 1.000 | 0.040 | 1 | 204156313 | synonymous variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
3 | 0.925 | 0.080 | 19 | 11123310 | synonymous variant | C/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
63 | 0.576 | 0.800 | 5 | 148826877 | missense variant | G/A | snv | 0.42 | 0.43 | 0.050 | 1.000 | 5 | 2002 | 2017 | |||
|
14 | 0.732 | 0.360 | 5 | 96788627 | missense variant | T/A;C | snv | 0.62 | 0.020 | 1.000 | 2 | 2002 | 2006 | ||||
|
57 | 0.602 | 0.520 | 3 | 114171968 | missense variant | C/T | snv | 0.63 | 0.54 | 0.010 | < 0.001 | 1 | 2002 | 2002 | |||
|
3 | 0.925 | 0.080 | 20 | 49513169 | stop gained | G/A;T | snv | 4.0E-06; 0.25 | 0.010 | < 0.001 | 1 | 2003 | 2003 |