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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.280 | 6 | 31344549 | intron variant | T/G | snv | 8.8E-02 |
|
0.800 | 1.000 | 2 | 2007 | 2008 | ||||||||
|
1.000 | 0.040 | 1 | 152618666 | downstream gene variant | A/C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.160 | 1 | 152577542 | downstream gene variant | T/G | snv | 0.59 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.040 | 1 | 152619708 | downstream gene variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.925 | 0.080 | 5 | 159323761 | intron variant | C/G;T | snv | 0.26 |
|
0.800 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.040 | 8 | 3826677 | intron variant | C/T | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 20 | 45352086 | upstream gene variant | T/C | snv | 0.79 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.280 | 6 | 111601517 | non coding transcript exon variant | A/G | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 5 | 96824289 | intron variant | A/C | snv | 0.90 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 17 | 22180454 | intron variant | A/G | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.776 | 0.240 | 5 | 160452971 | intron variant | T/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.752 | 0.320 | 19 | 10362257 | splice region variant | A/C;G | snv | 0.50 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 5 | 151089865 | intron variant | C/T | snv | 0.49 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.925 | 0.080 | 6 | 111374888 | missense variant | T/C | snv | 5.9E-02 | 5.6E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1.000 | 0.040 | 18 | 63989551 | intron variant | T/C | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 3 | 18742931 | intron variant | A/G | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 8 | 3821924 | intron variant | C/T | snv | 0.75 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
1.000 | 0.040 | 5 | 159345574 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.925 | 0.080 | 5 | 151094113 | upstream gene variant | A/G | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.851 | 0.120 | 1 | 152578800 | downstream gene variant | A/G;T | snv |
|
0.820 | 1.000 | 2 | 2009 | 2011 | |||||||||
|
1.000 | 0.040 | 19 | 1312729 | intergenic variant | G/A | snv | 7.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 20 | 49939692 | intron variant | C/T | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.827 | 0.120 | 2 | 62324337 | intergenic variant | A/G | snv | 0.57 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 108054739 | regulatory region variant | A/G | snv | 0.44 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 8208035 | intron variant | G/A | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2012 | 2012 |