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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 1.000 | 0.080 | 1 | 177944384 | intron variant | T/C | snv | 0.22 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 5 | 180743819 | upstream gene variant | C/A;T | snv | 0.11 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
13 | 0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 4 | 25401644 | intron variant | C/T | snv | 4.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 18 | 25677222 | intergenic variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 1 | 96478438 | intergenic variant | T/C | snv | 0.49 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
8 | 0.882 | 0.160 | 1 | 72299433 | intron variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
5 | 0.925 | 0.200 | 6 | 31605179 | intergenic variant | A/C | snv | 0.34 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
6 | 1.000 | 0.080 | 19 | 33818627 | downstream gene variant | A/G | snv | 0.70 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.800 | 1.000 | 1 | 2009 | 2009 | |||
|
7 | 0.925 | 0.160 | 16 | 53735765 | intron variant | G/A | snv | 0.59 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
17 | 0.827 | 0.240 | 12 | 49853685 | intergenic variant | G/A;T | snv | 0.800 | 1.000 | 1 | 2009 | 2009 | |||||
|
1 | 13 | 27484267 | upstream gene variant | A/G | snv | 0.19 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||||
|
9 | 0.925 | 0.120 | 16 | 28871920 | missense variant | A/G;T | snv | 0.35 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.925 | 0.120 | 2 | 644953 | intergenic variant | A/G | snv | 0.81 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
8 | 1.000 | 0.080 | 3 | 186116501 | intron variant | T/C | snv | 0.74 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
32 | 0.716 | 0.560 | 16 | 53782363 | intron variant | C/A | snv | 0.40 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
9 | 0.882 | 0.120 | 11 | 27645655 | intron variant | T/G | snv | 0.72 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 5 | 165950694 | intergenic variant | G/C | snv | 0.13 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 4 | 120941346 | intergenic variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 2 | 12824371 | intron variant | A/G | snv | 0.59 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 1 | 61914626 | missense variant | G/A;C | snv | 0.57; 8.0E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 6 | 119791894 | intergenic variant | G/A | snv | 0.32 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 11 | 27660049 | non coding transcript exon variant | C/G | snv | 0.19 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 105695979 | intron variant | G/A | snv | 6.7E-02 | 0.700 | 1.000 | 1 | 2017 | 2017 |