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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
22 | 0.689 | 0.280 | 2 | 21006288 | missense variant | C/A;T | snv | 2.8E-04 | 7.3E-04 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||
|
16 | 0.742 | 0.160 | 3 | 148741608 | synonymous variant | C/T | snv | 0.49 | 0.41 | 0.010 | < 0.001 | 1 | 1994 | 1994 | |||
|
65 | 0.574 | 0.680 | 1 | 169546513 | missense variant | T/C | snv | 4.0E-06 | 0.030 | 0.667 | 3 | 1995 | 2009 | ||||
|
14 | 0.742 | 0.240 | 8 | 19948197 | missense variant | G/A;C | snv | 1.4E-02; 2.0E-05 | 0.020 | 1.000 | 2 | 1995 | 2016 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.100 | 0.864 | 22 | 1996 | 2018 | |||
|
19 | 0.724 | 0.280 | 16 | 56983380 | missense variant | A/G | snv | 2.6E-03 | 6.5E-04 | 0.030 | 1.000 | 3 | 1996 | 2005 | |||
|
6 | 0.807 | 0.120 | 11 | 116836082 | missense variant | C/A | snv | 4.2E-06 | 0.010 | 1.000 | 1 | 1996 | 1996 | ||||
|
5 | 0.827 | 0.040 | 11 | 116836193 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.922 | 64 | 1997 | 2019 | |||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.100 | 0.950 | 20 | 1997 | 2016 | |||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.090 | 0.889 | 9 | 1997 | 2014 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.090 | 0.889 | 9 | 1997 | 2014 | |||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.080 | 0.875 | 8 | 1997 | 2007 | ||||
|
10 | 0.763 | 0.120 | 19 | 44909101 | missense variant | C/G;T | snv | 3.9E-04; 1.0E-05 | 0.010 | 1.000 | 1 | 1997 | 1997 | ||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.974 | 39 | 1998 | 2020 | ||||
|
35 | 0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 | 0.070 | 1.000 | 7 | 1998 | 2019 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.060 | 1.000 | 6 | 1998 | 2013 | |||
|
24 | 0.677 | 0.440 | 7 | 95405463 | missense variant | G/C | snv | 0.27 | 0.27 | 0.060 | 0.667 | 6 | 1998 | 2018 | |||
|
35 | 0.637 | 0.440 | 1 | 230710231 | missense variant | G/A | snv | 0.12 | 0.11 | 0.050 | 0.800 | 5 | 1998 | 2013 | |||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.020 | 0.500 | 2 | 1998 | 2013 | ||||
|
3 | 0.882 | 0.040 | 8 | 27605112 | missense variant | C/G;T | snv | 7.2E-05 | 1.0E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
36 | 0.658 | 0.440 | 4 | 119320747 | missense variant | T/A;C;G | snv | 0.73 | 0.010 | 1.000 | 1 | 1998 | 1998 | ||||
|
14 | 0.742 | 0.240 | 16 | 58723829 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 1998 | 1998 | |||||
|
8 | 0.776 | 0.200 | 19 | 44907799 | missense variant | C/T | snv | 4.0E-06 | 0.020 | 1.000 | 2 | 1999 | 2013 | ||||
|
4 | 0.882 | 0.040 | 17 | 63479897 | missense variant | G/A;T | snv | 3.2E-05 | 0.010 | 1.000 | 1 | 1999 | 1999 |