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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 3 | 172506513 | missense variant | A/C;G;T | snv | 2.1E-05; 0.65 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
34 | 0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
13 | 0.752 | 0.200 | 17 | 7674797 | non coding transcript exon variant | T/A;C;G | snv | 9.1E-06; 0.86; 4.5E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
9 | 0.790 | 0.160 | 15 | 98960571 | 3 prime UTR variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
11 | 0.776 | 0.160 | 2 | 214752454 | missense variant | C/G;T | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
5 | 0.827 | 0.200 | 17 | 7675327 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
6 | 0.827 | 0.080 | 15 | 28082689 | intron variant | C/A;G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
34 | 0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
5 | 0.851 | 0.080 | 17 | 43091030 | stop gained | C/A;T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
9 | 0.882 | 0.080 | 6 | 151944320 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
5 | 0.827 | 0.160 | 8 | 19954234 | missense variant | G/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 17 | 7667762 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
50 | 0.611 | 0.680 | 20 | 58909201 | synonymous variant | T/C | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
5 | 0.882 | 0.080 | 6 | 151944323 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
13 | 0.732 | 0.200 | 1 | 182586014 | stop gained | C/A | snv | 3.6E-03; 4.0E-06 | 3.3E-03 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
8 | 0.776 | 0.280 | 17 | 7674109 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
14 | 0.732 | 0.160 | 17 | 7674089 | intron variant | A/C | snv | 0.10 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
7 | 0.827 | 0.080 | 16 | 48224287 | missense variant | C/G;T | snv | 4.0E-06; 0.22 | 0.13 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
11 | 0.763 | 0.280 | 16 | 13921224 | intron variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
157 | 0.485 | 0.840 | 7 | 95308134 | missense variant | T/C | snv | 0.38 | 0.42 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
16 | 0.732 | 0.280 | 2 | 217041109 | intergenic variant | A/G | snv | 0.44 | 0.010 | 1.000 | 1 | 2009 | 2009 |