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 | 29958713 | intergenic variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 2 | 133247997 | intron variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 7 | 156255955 | intergenic variant | T/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
7 | 9 | 70383416 | downstream gene variant | A/C | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 1 | 92913536 | intron variant | G/A | snv | 0.35 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 5 | 157515277 | intron variant | A/G | snv | 7.1E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 9 | 118597268 | intergenic variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 18244252 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 89018502 | intergenic variant | T/A | snv | 0.23 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1 | 92936280 | intron variant | A/G | snv | 0.36 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 1 | 156138701 | missense variant | G/A;T | snv | 1.4E-04; 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 6 | 108002555 | downstream gene variant | G/A | snv | 1.9E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 3 | 43189231 | intergenic variant | C/G | snv | 5.9E-02 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 5 | 63961656 | missense variant | C/G;T | snv | 3.2E-04 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
2 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
2 | 9 | 87416754 | regulatory region variant | G/C | snv | 7.4E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 8 | 57928349 | intron variant | G/A;T | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 8 | 57928365 | intron variant | C/T | snv | 0.14 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 10718819 | intergenic variant | C/G | snv | 0.59 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
1 | 17 | 30234737 | intron variant | A/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 13 | 101055958 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 18 | 4127583 | intron variant | A/C;T | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
2 | 11 | 98223945 | intergenic variant | C/T | snv | 0.38 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 11 | 98254676 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 100308811 | intergenic variant | C/T | snv | 0.20 | 0.800 | 1.000 | 1 | 2010 | 2010 |