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 | 0.120 | 20 | 10645245 | frameshift variant | ACTG/- | delins | 0.700 | 1.000 | 4 | 1997 | 2005 | |||||
|
3 | 1.000 | 5 | 160413521 | missense variant | G/A | snv | 1.6E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 1.000 | 0.080 | 8 | 11755064 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.120 | 19 | 18868625 | missense variant | A/G | snv | 5.1E-04 | 2.7E-04 | 0.700 | 0 | ||||||
|
4 | 0.925 | 0.120 | 12 | 114385522 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
4 | 0.882 | 0.080 | 9 | 37784894 | stop gained | G/A;C | snv | 8.6E-06; 3.1E-04 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.925 | 8 | 143818378 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
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 | |||
|
4 | 0.882 | 0.200 | 17 | 18344707 | intron variant | T/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.925 | 0.120 | 12 | 119876131 | frameshift variant | AAAGGATTCC/- | delins | 0.700 | 0 | ||||||||
|
5 | 0.925 | 0.120 | 12 | 114401830 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
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 | ||||
|
5 | 0.851 | 0.080 | 19 | 18869363 | missense variant | G/A | snv | 0.37 | 0.30 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
6 | 0.882 | 0.120 | 12 | 114385521 | missense variant | C/G;T | snv | 0.010 | 1.000 | 1 | 1999 | 1999 | |||||
|
6 | 0.851 | 0.120 | 4 | 139874173 | intron variant | G/A | snv | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
6 | 0.851 | 0.120 | 1 | 118360355 | intergenic variant | A/G | snv | 0.25 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
7 | 0.851 | 0.240 | 6 | 149378954 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
7 | 0.882 | 0.160 | 2 | 210675762 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
7 | 0.851 | 0.120 | 4 | 4646320 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.827 | 0.080 | 8 | 11750213 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
10 | 0.763 | 0.200 | 16 | 331927 | intron variant | C/A | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.827 | 0.160 | 1 | 156134830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
12 | 0.776 | 0.280 | 5 | 7878066 | missense variant | C/T | snv | 0.31 | 0.32 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
14 | 0.742 | 0.480 | 17 | 63488670 | synonymous variant | G/A | snv | 0.53 | 0.010 | 1.000 | 1 | 2017 | 2017 |