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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.240 | 11 | 32428521 | missense variant | G/A;T | snv | 3.9E-04; 2.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | ||||
|
36 | 0.653 | 0.560 | 18 | 31598655 | missense variant | G/A | snv | 1.1E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.882 | 0.120 | 14 | 81143883 | stop gained | C/T | snv | 4.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 10 | 17138170 | 3 prime UTR variant | A/C | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
6 | 0.882 | 0.120 | 12 | 114385521 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
5 | 0.925 | 0.120 | 12 | 114401830 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.925 | 0.120 | 12 | 114385522 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
2 | 1.000 | 0.040 | 7 | 35247689 | intron variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
3 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
4 | 0.882 | 0.200 | 17 | 18344707 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 8 | 143818378 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 9 | 125915818 | missense variant | C/T | snv | 7.2E-03 | 6.1E-03 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
246 | 0.430 | 0.880 | 7 | 150999023 | missense variant | T/A;G | snv | 0.75 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 5 | 173233142 | frameshift variant | CCG/AT | delins | 0.700 | 1.000 | 2 | 1998 | 1999 | |||||||
|
1 | 5 | 173233212 | splice region variant | G/C | snv | 0.700 | 0 | ||||||||||
|
2 | 14 | 23413792 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.040 | 1.000 | 4 | 2006 | 2017 | |||
|
12 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
1 | 15 | 79885941 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 13 | 2001 | 2019 | |||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.030 | 1.000 | 3 | 2009 | 2017 | |||||
|
52 | 0.614 | 0.640 | 14 | 64442127 | missense variant | G/A | snv | 0.44 | 0.38 | 0.030 | 1.000 | 3 | 2009 | 2017 |