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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 0.851 | 0.320 | 17 | 3664199 | missense variant | A/C;G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.280 | 12 | 120997504 | missense variant | C/T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.280 | 12 | 120994264 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
46 | 0.716 | 0.320 | X | 154031355 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
5 | 0.827 | 0.280 | 12 | 120994315 | frameshift variant | C/-;CC;CCC | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 12 | 120993601 | missense variant | G/A | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.280 | 12 | 120996568 | missense variant | C/A;G;T | snv | 2.4E-05; 1.9E-04; 3.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | X | 49257483 | missense variant | G/A | snv | 2.2E-05 | 0.700 | 0 | |||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.080 | 1.000 | 8 | 1996 | 2018 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.040 | 1.000 | 4 | 1996 | 2008 | ||||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
7 | 0.851 | 0.160 | 17 | 81809839 | missense variant | G/A | snv | 7.4E-03 | 6.3E-03 | 0.010 | 1.000 | 1 | 1997 | 1997 | |||
|
115 | 0.504 | 0.720 | 2 | 203867991 | missense variant | A/G;T | snv | 0.42; 4.0E-06 | 0.100 | 0.875 | 16 | 1998 | 2019 | ||||
|
9 | 0.763 | 0.360 | 6 | 32584333 | missense variant | C/G | snv | 1.3E-05 | 0.030 | 1.000 | 3 | 1998 | 2003 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.030 | 0.667 | 3 | 1998 | 2009 | |||
|
4 | 0.882 | 0.120 | 2 | 181678728 | missense variant | T/C | snv | 0.70 | 0.68 | 0.090 | 0.778 | 9 | 1999 | 2005 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.030 | 0.667 | 3 | 1999 | 2006 | |||
|
3 | 0.882 | 0.160 | 2 | 170829475 | missense variant | G/C | snv | 4.0E-06 | 1.4E-05 | 0.020 | 0.500 | 2 | 1999 | 2003 | |||
|
82 | 0.561 | 0.760 | 6 | 32183666 | missense variant | C/T | snv | 5.3E-02 | 3.6E-02 | 0.020 | 1.000 | 2 | 1999 | 2011 | |||
|
37 | 0.630 | 0.600 | 16 | 69711128 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
49 | 0.608 | 0.720 | 14 | 102250837 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.120 | 7 | 107793769 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
59 | 0.576 | 0.680 | 16 | 69711242 | missense variant | G/A | snv | 0.25 | 0.21 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.050 | 0.600 | 5 | 2000 | 2019 |