| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
15 | 58450532 | intron variant | T/G | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.645 | 0.600 | 2 | 27508073 | missense variant | T/C;G | snv | 0.63; 4.0E-06 | 0.68 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | |||||||
|
0.790 | 0.280 | 18 | 60217517 | intergenic variant | G/A | snv | 0.21 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
1.000 | 0.040 | 9 | 104884939 | intron variant | C/T | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
18 | 49632720 | intergenic variant | A/G | snv | 0.86 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.882 | 0.160 | 19 | 44892009 | intron variant | G/A | snv | 0.69 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 9 | 15289580 | intron variant | C/T | snv | 0.87 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.080 | 11 | 48497341 | downstream gene variant | A/G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1 | 230169242 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||||
|
1.000 | 0.040 | 16 | 67674994 | 3 prime UTR variant | A/G | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 6 | 34585020 | downstream gene variant | G/A | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
15 | 58396988 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
15 | 58406811 | intron variant | C/A;G;T | snv |
|
0.700 | 1.000 | 1 | 2011 | 2011 | |||||||||||
|
16 | 56984190 | downstream gene variant | G/T | snv | 0.61 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
15 | 58398555 | intron variant | G/A | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
15 | 58401661 | intron variant | C/T | snv | 0.73 |
|
0.700 | 1.000 | 1 | 2011 | 2011 | ||||||||||
|
1.000 | 0.080 | 19 | 44873027 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
0.649 | 0.400 | 16 | 56982180 | missense variant | G/A;C | snv | 0.62 |
|
0.700 | 1.000 | 3 | 2008 | 2012 | ||||||||
|
1.000 | 0.040 | 11 | 116793324 | upstream gene variant | G/A;C | snv |
|
0.700 | 1.000 | 2 | 2012 | 2012 | |||||||||
|
6 | 160668785 | intron variant | G/A | snv | 0.23 |
|
0.800 | 1.000 | 2 | 2010 | 2012 | ||||||||||
|
16 | 56973534 | intron variant | T/A;G | snv | 2.4E-05; 0.22 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
19 | 44917997 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 2 | 2012 | 2012 | ||||||||||
|
0.851 | 0.160 | 11 | 61803876 | 5 prime UTR variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2012 |