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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.080 | 4 | 9998877 | intron variant | A/C;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.925 | 0.120 | 4 | 9998612 | intron variant | G/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9997711 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.120 | 4 | 9996869 | synonymous variant | A/G | snv | 0.80 | 0.79 | 0.700 | 1.000 | 2 | 2009 | 2011 | |||
|
3 | 0.925 | 0.120 | 4 | 9996816 | synonymous variant | C/G;T | snv | 1.2E-05; 0.70 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 0.925 | 0.120 | 4 | 9996177 | intron variant | T/C | snv | 0.80 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9995810 | non coding transcript exon variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9995679 | non coding transcript exon variant | G/A | snv | 0.72 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 0.925 | 0.120 | 4 | 9995488 | intron variant | C/A;T | snv | 0.700 | 1.000 | 2 | 2009 | 2011 | |||||
|
3 | 0.925 | 0.120 | 4 | 9995436 | intron variant | C/T | snv | 0.24 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
4 | 0.882 | 0.200 | 4 | 9995266 | intron variant | T/C | snv | 0.82 | 0.800 | 1.000 | 3 | 2009 | 2018 | ||||
|
1 | 15 | 99951677 | regulatory region variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 0.925 | 0.120 | 4 | 9994885 | intron variant | G/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9994227 | intron variant | A/T | snv | 0.48 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9993752 | intron variant | G/A | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 15 | 99936478 | intergenic variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 4 | 9993632 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
1 | 4 | 9993616 | intron variant | C/T | snv | 0.71 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
4 | 0.882 | 0.160 | 4 | 9993558 | intron variant | G/A;C | snv | 0.800 | 1.000 | 8 | 2009 | 2019 | |||||
|
7 | 0.827 | 0.240 | 4 | 9992591 | intron variant | C/T | snv | 0.82 | 0.800 | 1.000 | 4 | 2009 | 2017 | ||||
|
3 | 0.925 | 0.120 | 4 | 9992214 | intron variant | C/G;T | snv | 0.71 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
3 | 0.925 | 0.120 | 4 | 9992148 | intron variant | T/C | snv | 0.48 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9990331 | intron variant | C/T | snv | 0.23 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9988704 | intron variant | G/C | snv | 0.45 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.120 | 4 | 9987609 | intron variant | C/T | snv | 0.84 | 0.800 | 1.000 | 2 | 2009 | 2018 |