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 | 1.000 | 0.040 | 21 | 43339560 | intergenic variant | C/A;G;T | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 21 | 43535523 | intron variant | T/C | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
2 | 1.000 | 0.040 | 20 | 32182402 | downstream gene variant | A/G | snv | 1.0E-01 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 20 | 10988382 | intron variant | A/G | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 20 | 59176062 | intron variant | A/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 20 | 59170760 | intron variant | G/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 19 | 50865248 | intron variant | C/T | snv | 0.61 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 19 | 17108295 | intron variant | G/A | snv | 0.36 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 18 | 60500379 | intron variant | T/G | snv | 1.1E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 18 | 1848628 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 18 | 58975551 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 18 | 62679966 | intergenic variant | T/A | snv | 8.5E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
8 | 0.925 | 0.040 | 17 | 49363104 | intron variant | A/G | snv | 0.37 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
5 | 17 | 49325445 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
5 | 0.925 | 0.040 | 17 | 45130754 | intron variant | A/T | snv | 0.21 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
8 | 1.000 | 0.040 | 17 | 46935905 | 3 prime UTR variant | T/C | snv | 9.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 17 | 45078546 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 17 | 871811 | intron variant | T/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
2 | 17 | 872094 | intron variant | G/C | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||||
|
4 | 17 | 46829583 | intron variant | T/C | snv | 0.82 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
1 | 17 | 34495359 | intergenic variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 1.000 | 0.040 | 16 | 75381443 | intron variant | T/C | snv | 0.52 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 16 | 24747810 | intron variant | A/G | snv | 0.82 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 16 | 83730599 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2007 | 2007 | ||||||
|
1 | 16 | 1204369 | missense variant | C/A;T | snv | 9.4E-06; 8.2E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 |