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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.160 | 6 | 151612040 | intron variant | A/G | snv | 0.58 |
|
0.800 | 1.000 | 3 | 2008 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 151747229 | intron variant | G/A | snv | 0.55 |
|
0.800 | 1.000 | 3 | 2008 | 2009 | ||||||||
|
1.000 | 0.080 | 6 | 151580274 | intron variant | C/T | snv | 0.44 |
|
0.800 | 1.000 | 3 | 2008 | 2009 | ||||||||
|
8 | 119032590 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 3 | 2008 | 2009 | |||||||||||
|
1.000 | 0.080 | 8 | 119039999 | intron variant | T/C | snv | 0.60 |
|
0.800 | 1.000 | 3 | 2008 | 2009 | ||||||||
|
0.882 | 0.160 | 1 | 22371954 | intergenic variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 3 | 2008 | 2011 | ||||||||
|
13 | 42458457 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 3 | 2008 | 2009 | ||||||||||
|
2 | 54457420 | intron variant | A/G | snv | 0.76 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||||
|
8 | 118963431 | intergenic variant | C/T | snv | 0.34 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 151769572 | intron variant | A/G | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 151687645 | intron variant | C/T | snv | 0.38 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
0.882 | 0.120 | 8 | 118911634 | regulatory region variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2008 | 2009 | |||||||||
|
8 | 118996132 | intron variant | T/C | snv | 0.62 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
1 | 22376365 | regulatory region variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2009 | 2009 | |||||||||||
|
0.851 | 0.160 | 6 | 151615542 | missense variant | G/A | snv | 0.31 | 0.36 |
|
0.800 | 1.000 | 2 | 2009 | 2009 | |||||||
|
6 | 151625933 | downstream gene variant | G/A | snv | 0.56 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
6 | 151555680 | intron variant | G/A | snv | 0.48 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
13 | 42371327 | intron variant | A/G | snv | 0.26 |
|
0.700 | 1.000 | 2 | 2009 | 2009 | ||||||||||
|
13 | 42378009 | intron variant | C/T | snv | 0.39 |
|
0.800 | 1.000 | 2 | 2008 | 2018 | ||||||||||
|
1.000 | 0.040 | 16 | 86677054 | regulatory region variant | A/G | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
11 | 46827809 | intron variant | G/A | snv | 0.64 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.080 | 7 | 96508362 | intron variant | A/G | snv | 0.72 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
8 | 119027942 | intron variant | C/T | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 119022148 | intron variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
8 | 119027482 | intron variant | T/C | snv | 0.58 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |