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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
12 | 0.752 | 0.360 | 17 | 7676381 | splice donor variant | C/A;G | snv | 0.700 | 0 | ||||||||
|
12 | 0.752 | 0.360 | 17 | 7675052 | splice donor variant | C/T | snv | 0.700 | 0 | ||||||||
|
57 | 0.592 | 0.640 | 17 | 7674220 | missense variant | C/A;G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
18 | 0.716 | 0.360 | 17 | 7673821 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.677 | 0.360 | 17 | 7674886 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
22 | 0.689 | 0.400 | 6 | 36684194 | missense variant | C/A;T | snv | 0.15; 4.4E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
2 | 1.000 | 0.120 | 6 | 54121506 | missense variant | A/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
32 | 0.641 | 0.440 | 17 | 7674888 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 1995 | 1995 | |||||
|
31 | 0.649 | 0.560 | 4 | 1801841 | missense variant | C/A;G;T | snv | 4.2E-06; 1.3E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
9 | 0.851 | 0.320 | 18 | 23536736 | missense variant | A/G | snv | 2.0E-04 | 2.4E-04 | 0.020 | 1.000 | 2 | 2003 | 2011 | |||
|
1 | 1.000 | 0.120 | 1 | 206935771 | missense variant | C/G;T | snv | 0.38 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.120 | 1 | 206933133 | missense variant | G/A;C | snv | 0.10 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.120 | 3 | 50296800 | missense variant | T/A;G | snv | 0.13 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.882 | 0.280 | 18 | 23538651 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.280 | 18 | 23534476 | synonymous variant | C/A;T | snv | 2.6E-03; 1.3E-04 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.060 | 0.667 | 6 | 2006 | 2018 | |||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.050 | 0.600 | 5 | 2006 | 2018 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.040 | 1.000 | 4 | 2007 | 2016 | |||
|
15 | 0.752 | 0.320 | 16 | 55478465 | intron variant | C/T | snv | 0.12 | 0.020 | 1.000 | 2 | 2007 | 2019 | ||||
|
107 | 0.515 | 0.840 | 19 | 41353016 | missense variant | G/A;C | snv | 0.55; 2.4E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.020 | 1.000 | 2 | 2008 | 2017 | |||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
1 | 1.000 | 0.120 | 2 | 88859459 | intron variant | G/A | snv | 0.15 | 0.010 | 1.000 | 1 | 2008 | 2008 |