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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
19 | 0.742 | 0.280 | 16 | 55697923 | synonymous variant | G/A;C | snv | 0.31; 4.0E-06 | 0.100 | 0.929 | 14 | 1999 | 2019 | ||||
|
82 | 0.562 | 0.640 | 13 | 46895805 | synonymous variant | G/A | snv | 0.41 | 0.40 | 0.100 | 0.933 | 15 | 2000 | 2019 | |||
|
17 | 0.708 | 0.200 | 1 | 19666020 | synonymous variant | C/T | snv | 0.15; 8.0E-06 | 0.16 | 0.020 | 0.500 | 2 | 2001 | 2005 | |||
|
23 | 0.677 | 0.360 | 13 | 46834899 | missense variant | G/A | snv | 7.9E-02 | 9.5E-02 | 0.020 | 1.000 | 2 | 2001 | 2014 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.070 | 0.714 | 7 | 2002 | 2019 | ||||
|
7 | 0.827 | 0.160 | 17 | 63489038 | synonymous variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.100 | 0.862 | 58 | 2003 | 2019 | |||
|
237 | 0.448 | 0.760 | 11 | 27658456 | missense variant | C/T | snv | 1.2E-05 | 0.100 | 0.826 | 46 | 2003 | 2019 | ||||
|
23 | 0.732 | 0.160 | 6 | 77462543 | synonymous variant | C/G | snv | 0.31 | 0.27 | 0.020 | 1.000 | 2 | 2003 | 2017 | |||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.090 | 0.778 | 9 | 2004 | 2017 | |||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.100 | 1.000 | 23 | 2005 | 2019 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.800 | 10 | 2005 | 2017 | |||
|
2 | 0.925 | 0.040 | 13 | 33112802 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.040 | 22 | 23285182 | missense variant | A/G | snv | 0.81 | 0.86 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
3 | 0.882 | 0.120 | 11 | 27703198 | intron variant | C/G | snv | 0.83 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
16 | 0.752 | 0.280 | 12 | 121184393 | missense variant | A/G | snv | 0.13 | 0.12 | 0.070 | 0.714 | 7 | 2006 | 2018 | |||
|
7 | 0.827 | 0.080 | 12 | 72031544 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.030 | 1.000 | 3 | 2006 | 2015 | |||
|
20 | 0.724 | 0.400 | 17 | 63476833 | upstream gene variant | T/A;C | snv | 0.020 | 1.000 | 2 | 2006 | 2009 | |||||
|
13 | 0.752 | 0.200 | 1 | 232008852 | missense variant | A/T | snv | 0.26 | 0.29 | 0.020 | 1.000 | 2 | 2006 | 2014 | |||
|
51 | 0.590 | 0.800 | 6 | 159692720 | missense variant | G/A;T | snv | 8.0E-06 | 0.020 | < 0.001 | 2 | 2006 | 2013 | ||||
|
36 | 0.645 | 0.480 | 11 | 27658414 | missense variant | C/A;T | snv | 4.0E-06; 4.0E-06 | 0.050 | 0.600 | 5 | 2007 | 2019 | ||||
|
97 | 0.538 | 0.800 | 7 | 87531302 | missense variant | A/C;T | snv | 0.54; 3.8E-02 | 0.030 | 0.333 | 3 | 2007 | 2019 | ||||
|
3 | 0.882 | 0.120 | 17 | 45818213 | intron variant | C/T | snv | 0.86 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
9 | 0.790 | 0.200 | 17 | 45815154 | intron variant | A/C | snv | 0.62 | 0.030 | 1.000 | 3 | 2007 | 2013 | ||||
|
4 | 0.851 | 0.160 | 17 | 45834159 | intron variant | C/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2007 | 2007 |