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 | 19 | 1220396 | missense variant | G/A | snv | 0.700 | 1.000 | 3 | 1998 | 2008 | |||||
|
1 | 1.000 | 0.120 | 19 | 23966743 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 3 | 2015 | 2017 | |||||
|
6 | 0.882 | 0.200 | 12 | 14500933 | 3 prime UTR variant | C/A;G;T | snv | 0.800 | 1.000 | 3 | 2013 | 2017 | |||||
|
1 | 1.000 | 0.120 | 16 | 11826180 | intron variant | A/G;T | snv | 0.710 | 1.000 | 3 | 2015 | 2017 | |||||
|
2 | 1.000 | 0.120 | 16 | 50109033 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2013 | 2017 | |||||
|
5 | 0.851 | 0.240 | 12 | 88592239 | intron variant | G/A;T | snv | 0.700 | 1.000 | 2 | 2013 | 2013 | |||||
|
7 | 0.827 | 0.160 | 5 | 1308437 | downstream gene variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2013 | 2017 | |||||
|
4 | 0.925 | 0.120 | 9 | 845516 | intron variant | A/C;G | snv | 0.700 | 1.000 | 2 | 2017 | 2017 | |||||
|
490 | 0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2020 | 2020 | ||||
|
480 | 0.354 | 0.840 | 7 | 140753335 | missense variant | CA/AT;TT | mnv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
1 | 1.000 | 0.120 | 7 | 40880714 | intergenic variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 19 | 53781435 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 4 | 188000286 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 15 | 85062196 | intron variant | G/A;C;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 4 | 188000201 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 11 | 78286890 | intron variant | C/G;T | snv | 0.710 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 1.000 | 0.120 | 16 | 15436851 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1.000 | 0.120 | 2 | 71345325 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 15 | 51226173 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.120 | 18 | 649311 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.925 | 0.120 | 4 | 54736498 | missense variant | G/C | snv | 0.700 | 0 | ||||||||
|
12 | 0.763 | 0.240 | 4 | 54733174 | missense variant | T/A;G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 5 | 172105697 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.120 | 21 | 33415009 | synonymous variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 |