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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 2000 | 2013 | |||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.100 | 0.818 | 11 | 1999 | 2018 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.090 | 0.778 | 9 | 2002 | 2012 | ||||
|
47 | 0.623 | 0.720 | 1 | 169731919 | missense variant | T/G | snv | 8.3E-02; 8.0E-06 | 7.8E-02 | 0.070 | 1.000 | 7 | 1999 | 2019 | |||
|
41 | 0.637 | 0.680 | 1 | 169732649 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.060 | 1.000 | 6 | 1999 | 2012 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.060 | 1.000 | 6 | 2001 | 2019 | |||
|
113 | 0.513 | 0.800 | 7 | 95316772 | missense variant | A/C;G;N;T | snv | 0.29 | 0.050 | 1.000 | 5 | 2001 | 2019 | ||||
|
11 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.040 | 0.750 | 4 | 2010 | 2018 | ||||
|
36 | 0.658 | 0.560 | 7 | 24285260 | missense variant | T/A;C | snv | 4.0E-06; 3.0E-02 | 0.040 | 1.000 | 4 | 2001 | 2012 | ||||
|
226 | 0.452 | 0.760 | 6 | 26090951 | missense variant | C/G;T | snv | 0.11 | 0.10 | 0.040 | 1.000 | 4 | 1998 | 2019 | |||
|
24 | 0.689 | 0.280 | 9 | 104858586 | missense variant | C/T | snv | 0.32 | 0.39 | 0.040 | 0.750 | 4 | 2003 | 2018 | |||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.040 | 1.000 | 4 | 2005 | 2016 | |||
|
27 | 0.683 | 0.400 | 4 | 2904980 | missense variant | G/A;T | snv | 1.2E-05; 0.20 | 0.040 | 1.000 | 4 | 2001 | 2020 | ||||
|
106 | 0.532 | 0.760 | 12 | 6845711 | synonymous variant | C/T | snv | 0.36 | 0.44 | 0.040 | 1.000 | 4 | 2002 | 2008 | |||
|
72 | 0.561 | 0.720 | 1 | 196690107 | missense variant | C/T | snv | 0.68 | 0.64 | 0.030 | 1.000 | 3 | 2008 | 2012 | |||
|
23 | 0.677 | 0.480 | 19 | 44908690 | missense variant | C/A;T | snv | 2.1E-05 | 0.030 | 1.000 | 3 | 1998 | 2000 | ||||
|
21 | 0.752 | 0.240 | 7 | 130023656 | missense variant | C/A;T | snv | 4.0E-06; 0.28 | 0.030 | 1.000 | 3 | 2013 | 2019 | ||||
|
16 | 0.776 | 0.160 | 19 | 8364439 | missense variant | G/A | snv | 1.3E-02 | 1.5E-02 | 0.030 | 1.000 | 3 | 2008 | 2009 | |||
|
10 | 0.776 | 0.120 | 1 | 55057454 | missense variant | G/A;C;T | snv | 7.2E-05 | 0.030 | 1.000 | 3 | 2010 | 2018 | ||||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.030 | 1.000 | 3 | 2000 | 2008 | |||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.030 | 1.000 | 3 | 2003 | 2014 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 1.000 | 3 | 2003 | 2014 | |||||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.030 | 1.000 | 3 | 1995 | 1997 | |||
|
38 | 0.637 | 0.680 | 3 | 39265765 | missense variant | C/T | snv | 0.22 | 0.22 | 0.030 | 1.000 | 3 | 2006 | 2016 | |||
|
10 | 0.807 | 0.120 | 15 | 78796769 | missense variant | A/G | snv | 0.34 | 0.33 | 0.030 | 1.000 | 3 | 2013 | 2019 |