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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.882 | 0.080 | 15 | 40718818 | missense variant | G/A | snv | 3.7E-04 | 1.7E-03 | 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 | |||||
|
4 | 0.851 | 0.160 | 17 | 43044391 | 3 prime UTR variant | G/A | snv | 0.34 | 0.31 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
10 | 0.807 | 0.280 | 2 | 201209375 | missense variant | G/A | snv | 4.2E-02 | 4.3E-02 | 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 | |||||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
23 | 0.708 | 0.440 | 8 | 31167138 | missense variant | T/C | snv | 0.24 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.120 | 19 | 45369118 | synonymous variant | G/A;C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.080 | 16 | 67621458 | synonymous variant | A/G | snv | 1.2E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
1 | 1.000 | 0.080 | 5 | 176968697 | missense variant | A/G | snv | 7.3E-04 | 7.3E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
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 | ||||
|
5 | 0.882 | 0.080 | 17 | 43093220 | synonymous variant | A/G | snv | 0.35 | 0.29 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
3 | 1.000 | 0.080 | 5 | 73136209 | intron variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
22 | 0.689 | 0.320 | 6 | 151944387 | synonymous variant | G/C | snv | 0.73 | 0.80 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
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 | ||||
|
7 | 0.807 | 0.200 | 17 | 19909228 | missense variant | T/C | snv | 0.37 | 0.43 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
21 | 0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 | ||||
|
1 | 1.000 | 0.080 | 15 | 85735078 | missense variant | G/A | snv | 0.22 | 0.19 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.851 | 0.160 | 10 | 121591810 | intron variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.010 | 1.000 | 1 | 2007 | 2007 |