| Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.763 | 0.360 | 3 | 165773492 | missense variant | C/T | snv | 0.18 | 0.18 |
|
0.800 | 1.000 | 2 | 2011 | 2011 | |||||||
|
2 | 203384676 | intron variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1 | 201983446 | 5 prime UTR variant | T/C | snv | 0.58 | 0.60 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
3 | 165771709 | intron variant | T/C | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 165771245 | intron variant | G/C | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.080 | 3 | 165771478 | intron variant | C/T | snv | 8.1E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
3 | 165722308 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1.000 | 0.040 | 8 | 19973410 | regulatory region variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
2 | 21021128 | intron variant | G/T | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203265173 | intron variant | G/A | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 165897353 | regulatory region variant | C/G | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 165906046 | intergenic variant | A/G | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
2 | 203058724 | intron variant | C/T | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
0.851 | 0.120 | 15 | 58386313 | intron variant | C/T | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
11 | 117286177 | 3 prime UTR variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
2 | 203105560 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
0.925 | 0.080 | 8 | 19990179 | intergenic variant | C/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
3 | 165749249 | intron variant | A/G | snv | 9.6E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 165697049 | intron variant | G/A | snv | 8.4E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 166009331 | intergenic variant | T/G | snv | 9.1E-02 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 166009461 | intergenic variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
1 | 201990610 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
3 | 165867467 | intergenic variant | C/T | snv | 0.52 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 166041120 | intergenic variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
3 | 166207739 | intergenic variant | G/T | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2011 | 2011 |