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 | 0.882 | 0.080 | 5 | 55865274 | intron variant | A/G | snv | 0.76 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.080 | 1 | 161743067 | intergenic variant | C/T | snv | 0.51 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
21 | 0.689 | 0.520 | 1 | 236803473 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
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 | 2014 | 2014 | ||||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
5 | 0.827 | 0.120 | 2 | 214809500 | missense variant | G/A | snv | 0.38 | 0.33 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.851 | 0.160 | 4 | 41747479 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
6 | 0.827 | 0.080 | 4 | 41746162 | missense variant | C/T | snv | 0.010 | < 0.001 | 1 | 2006 | 2006 | |||||
|
4 | 0.851 | 0.120 | 5 | 176626472 | missense variant | C/G;T | snv | 5.6E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.120 | 5 | 176621218 | missense variant | G/T | snv | 1.7E-04 | 2.0E-04 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
6 | 0.807 | 0.280 | 9 | 32974495 | stop gained | C/G;T | snv | 4.0E-06; 1.6E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
41 | 0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
147 | 0.476 | 0.800 | 3 | 9757089 | missense variant | C/G | snv | 0.27 | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
10 | 0.776 | 0.200 | 17 | 35004556 | 3 prime UTR variant | C/T | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
12 | 0.776 | 0.120 | 2 | 29220830 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.807 | 0.080 | 19 | 1223124 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.827 | 0.200 | 8 | 24952575 | 3 prime UTR variant | T/A;G | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.120 | 11 | 102599525 | intron variant | A/G | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.882 | 0.080 | 11 | 43706780 | intron variant | T/C | snv | 0.36 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.080 | 11 | 8231502 | intron variant | T/C | snv | 0.42 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.080 | 9 | 134449754 | TF binding site variant | T/C | snv | 0.46 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
24 | 0.677 | 0.400 | 5 | 168768351 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 26429683 | 3 prime UTR variant | G/A | snv | 0.21 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
72 | 0.555 | 0.720 | 14 | 20456995 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06; 0.42 | 0.010 | 1.000 | 1 | 2019 | 2019 |