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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.160 | 7 | 55156637 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.807 | 0.240 | 9 | 97675558 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.200 | 19 | 43552212 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
2 | 0.925 | 0.200 | 19 | 54983044 | missense variant | C/T | snv | 1.7E-04 | 3.4E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.200 | 19 | 54983245 | missense variant | C/T | snv | 4.4E-05 | 1.5E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.200 | 14 | 20457111 | missense variant | G/A | snv | 2.3E-04 | 2.1E-04 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
2 | 0.925 | 0.200 | 16 | 85461 | missense variant | G/A | snv | 8.0E-05 | 8.4E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
12 | 0.763 | 0.320 | 14 | 103712930 | splice region variant | T/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
8 | 0.807 | 0.280 | 17 | 43071077 | missense variant | T/A;C | snv | 5.2E-05; 0.35 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
15 | 0.732 | 0.400 | 9 | 107322047 | missense variant | C/T | snv | 0.20 | 0.16 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
41 | 0.605 | 0.600 | 8 | 89978251 | missense variant | C/G | snv | 0.35 | 0.31 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
3 | 0.882 | 0.240 | 12 | 102894894 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.160 | 16 | 85481 | missense variant | C/G;T | snv | 1.2E-05; 9.6E-05 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
34 | 0.653 | 0.600 | 7 | 17339486 | missense variant | G/A | snv | 0.15 | 0.22 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
16 | 0.752 | 0.280 | 1 | 20589208 | missense variant | A/C | snv | 0.28 | 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
6 | 0.851 | 0.200 | 3 | 142562770 | missense variant | A/G | snv | 0.55 | 0.63 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
31 | 0.658 | 0.520 | 7 | 55161562 | missense variant | G/A;C;T | snv | 0.29 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.200 | 9 | 35076758 | missense variant | G/A | snv | 1.5E-02 | 3.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
7 | 0.790 | 0.240 | 14 | 20456045 | missense variant | A/G | snv | 7.4E-03 | 2.1E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
29 | 0.653 | 0.480 | 10 | 129766800 | missense variant | A/G | snv | 9.3E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2005 | 2005 | |||
|
10 | 0.790 | 0.280 | 10 | 129766906 | missense variant | A/G | snv | 9.4E-02 | 8.7E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
23 | 0.677 | 0.480 | 19 | 45365051 | synonymous variant | T/G | snv | 0.58 | 0.65 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
78 | 0.554 | 0.600 | 17 | 7673802 | missense variant | C/A;G;T | snv | 4.0E-06; 1.6E-05 | 0.010 | 1.000 | 1 | 1995 | 1995 | ||||
|
42 | 0.620 | 0.400 | 19 | 45409478 | stop gained | C/A;G;T | snv | 0.29; 4.3E-06; 4.3E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 |