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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
6 | 0.925 | 0.080 | 2 | 60492835 | intron variant | C/A | snv | 0.80 | 0.800 | 1.000 | 5 | 2007 | 2016 | ||||
|
13 | 0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 4 | 2007 | 2015 | ||||
|
2 | 1.000 | 0.080 | 2 | 60493622 | intron variant | G/A | snv | 0.64 | 0.800 | 1.000 | 3 | 2007 | 2011 | ||||
|
2 | 1.000 | 0.080 | 2 | 60493454 | intron variant | A/G;T | snv | 0.800 | 1.000 | 3 | 2007 | 2012 | |||||
|
12 | 0.752 | 0.280 | 2 | 60493111 | intron variant | C/T | snv | 0.65 | 0.800 | 1.000 | 3 | 2007 | 2011 | ||||
|
6 | 0.827 | 0.120 | 2 | 60490908 | intron variant | T/C;G | snv | 0.800 | 1.000 | 3 | 2007 | 2014 | |||||
|
11 | 0.790 | 0.400 | 2 | 60493816 | intron variant | A/C;G | snv | 0.800 | 1.000 | 3 | 2007 | 2015 | |||||
|
10 | 0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 | 0.700 | 1.000 | 3 | 2008 | 2012 | ||||
|
1 | 11 | 5352021 | missense variant | C/T | snv | 0.24 | 0.27 | 0.800 | 1.000 | 3 | 2010 | 2012 | |||||
|
2 | 1.000 | 0.080 | 2 | 60494905 | intron variant | C/G;T | snv | 0.800 | 1.000 | 3 | 2007 | 2012 | |||||
|
1 | 2 | 60481462 | intron variant | C/T | snv | 0.64 | 0.700 | 1.000 | 3 | 2007 | 2012 | ||||||
|
3 | 2 | 60410521 | intron variant | G/A | snv | 0.39 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
1 | 11 | 5193183 | intergenic variant | T/A | snv | 0.53 | 0.700 | 1.000 | 2 | 2008 | 2011 | ||||||
|
2 | 2 | 60442359 | upstream gene variant | T/C | snv | 0.51 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
4 | 2 | 60380593 | intron variant | T/C | snv | 0.29 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
5 | 6 | 135122074 | intergenic variant | A/G | snv | 0.35 | 0.700 | 1.000 | 2 | 2007 | 2011 | ||||||
|
1 | 11 | 5434699 | intron variant | G/A;C | snv | 0.700 | 1.000 | 2 | 2008 | 2011 | |||||||
|
3 | 2 | 60382761 | intron variant | G/C;T | snv | 0.700 | 1.000 | 2 | 2007 | 2008 | |||||||
|
2 | 1.000 | 0.080 | 2 | 60491939 | intron variant | C/G;T | snv | 0.800 | 1.000 | 2 | 2007 | 2011 | |||||
|
3 | 2 | 60384873 | non coding transcript exon variant | C/T | snv | 0.29 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
3 | 2 | 60379872 | intron variant | T/A;G | snv | 0.700 | 1.000 | 2 | 2007 | 2011 | |||||||
|
2 | 2 | 60388168 | intron variant | A/G | snv | 0.42 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
2 | 2 | 60387893 | intron variant | A/C | snv | 0.42 | 0.700 | 1.000 | 2 | 2007 | 2008 | ||||||
|
3 | 11 | 5285279 | intron variant | G/A;T | snv | 0.800 | 1.000 | 2 | 2008 | 2011 | |||||||
|
1 | 2 | 60500494 | intron variant | G/A | snv | 0.30 | 0.700 | 1.000 | 2 | 2011 | 2012 |