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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
36 | 0.658 | 0.440 | 5 | 112839511 | frameshift variant | TAAA/- | delins | 0.100 | 0.800 | 10 | 1997 | 2004 | |||||
|
42 | 0.649 | 0.440 | 5 | 112839514 | missense variant | T/A | snv | 8.0E-06; 2.0E-03 | 1.2E-03 | 0.100 | 0.800 | 10 | 1997 | 2004 | |||
|
5 | 0.851 | 0.120 | 20 | 37403359 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2000 | 2000 | |||||
|
3 | 0.925 | 0.080 | 19 | 41352923 | missense variant | A/C;G | snv | 1.9E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
10 | 0.763 | 0.120 | 10 | 87864059 | 5 prime UTR variant | -/G | delins | 7.2E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
6 | 0.827 | 0.120 | 16 | 68822063 | missense variant | G/A;T | snv | 3.3E-03; 2.4E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
14 | 0.752 | 0.320 | 5 | 112841059 | missense variant | T/A;G | snv | 0.79 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2001 | 2001 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 11 | 2003 | 2015 | |||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.040 | 0.500 | 4 | 2003 | 2013 | |||
|
3 | 0.882 | 0.160 | 5 | 112837749 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
6 | 0.827 | 0.160 | 3 | 37050495 | missense variant | C/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.160 | 5 | 112837812 | missense variant | G/A;C | snv | 4.0E-06; 8.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
15 | 0.742 | 0.280 | 2 | 47475171 | missense variant | G/A;C | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.100 | 0.938 | 32 | 2004 | 2019 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.100 | 0.938 | 32 | 2004 | 2019 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.090 | 0.889 | 9 | 2004 | 2014 | |||||
|
1 | 1.000 | 0.080 | 11 | 70206265 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
6 | 0.882 | 0.080 | 6 | 43774362 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
38 | 0.637 | 0.560 | 2 | 226795828 | missense variant | C/G;T | snv | 4.0E-06; 5.2E-02 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
3 | 0.925 | 0.080 | 3 | 14168309 | missense variant | G/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.040 | 0.500 | 4 | 2005 | 2009 | ||||
|
131 | 0.500 | 0.840 | 3 | 12351626 | missense variant | C/G | snv | 0.11 | 8.9E-02 | 0.040 | 0.750 | 4 | 2005 | 2017 | |||
|
121 | 0.510 | 0.840 | 3 | 12379739 | missense variant | C/G | snv | 0.030 | 0.667 | 3 | 2005 | 2010 |