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 | 7 | 156255955 | intergenic variant | T/G | snv | 0.45 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
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 | ||||||
|
5 | 0.882 | 0.040 | 9 | 118597008 | intergenic variant | G/A;C | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||
|
2 | 9 | 118597268 | intergenic variant | C/A | snv | 0.44 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
4 | 0.925 | 0.040 | 6 | 89022382 | regulatory region variant | T/C | snv | 0.21 | 0.800 | 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 | ||||||
|
27 | 0.677 | 0.280 | 22 | 19969258 | 3 prime UTR variant | G/A | snv | 0.56 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 6 | 108002555 | downstream gene variant | G/A | snv | 1.9E-02 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
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 | ||||||
|
2 | 13 | 101055958 | intron variant | G/A | snv | 0.19 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
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 | ||||||
|
2 | 20 | 19870811 | intron variant | T/G | snv | 0.86 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
3 | 1.000 | 0.040 | 1 | 29959372 | intergenic variant | T/C | snv | 0.54 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 13 | 105999312 | intron variant | G/T | snv | 0.61 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 38329435 | intron variant | G/A | snv | 0.47 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 20 | 19871859 | non coding transcript exon variant | G/A | snv | 0.68 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.010 | 1.000 | 1 | 2010 | 2010 |