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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
17 | 0.724 | 0.320 | 13 | 49630894 | stop gained | G/A | snv | 4.2E-06 | 0.040 | 1.000 | 4 | 2006 | 2006 | ||||
|
19 | 0.708 | 0.320 | 13 | 49630889 | missense variant | T/C;G | snv | 0.39 | 0.030 | 1.000 | 3 | 2006 | 2006 | ||||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.020 | 1.000 | 2 | 2005 | 2008 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||
|
8 | 0.776 | 0.200 | 14 | 45198718 | stop gained | C/A;T | snv | 4.0E-06; 1.0E-03 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
11 | 0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 | 0.020 | 1.000 | 2 | 2006 | 2012 | ||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.020 | 1.000 | 2 | 2005 | 2008 | |||||
|
3 | 0.882 | 0.080 | 17 | 43093956 | frameshift variant | A/-;AA | delins | 0.020 | 1.000 | 2 | 2006 | 2007 | |||||
|
34 | 0.637 | 0.480 | 2 | 201284866 | missense variant | G/A;C;T | snv | 4.0E-06; 9.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
34 | 0.649 | 0.480 | 17 | 7675209 | missense variant | A/C;G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.080 | 17 | 7675155 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.080 | 16 | 71321332 | intergenic variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.851 | 0.080 | 17 | 7675207 | frameshift variant | GCA/CC | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
3 | 0.882 | 0.080 | 2 | 214767532 | frameshift variant | -/TG | delins | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 1.000 | 0.080 | 1 | 91353084 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
17 | 0.716 | 0.320 | 10 | 121586676 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
28 | 0.667 | 0.480 | 10 | 113049143 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||
|
3 | 0.882 | 0.080 | 17 | 58703319 | missense variant | A/G | snv | 0.010 | < 0.001 | 1 | 2004 | 2004 | |||||
|
4 | 0.851 | 0.120 | 19 | 45369118 | synonymous variant | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
6 | 0.851 | 0.200 | 13 | 49630839 | missense variant | C/A;T | snv | 3.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
1 | 1.000 | 0.080 | 16 | 23634870 | missense variant | T/A;C | snv | 0.10 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.080 | 5 | 73136209 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 17 | 39723332 | missense variant | A/C;G | snv | 4.0E-06; 4.9E-03 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
3 | 0.882 | 0.080 | 2 | 214767531 | missense variant | C/A;T | snv | 1.6E-05; 0.37 | 0.010 | 1.000 | 1 | 2006 | 2006 |