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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.827 | 0.360 | 15 | 78943104 | intron variant | T/C | snv | 0.50 |
|
0.800 | 1.000 | 2 | 2008 | 2009 | ||||||||
|
0.925 | 0.120 | 11 | 2191936 | regulatory region variant | C/T | snv | 0.29 |
|
0.800 | 1.000 | 2 | 2007 | 2009 | ||||||||
|
0.925 | 0.120 | 6 | 32830954 | intron variant | C/G;T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.882 | 0.160 | 4 | 26083889 | intron variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 10 | 98540425 | intron variant | C/T | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
1.000 | 0.120 | 12 | 9703362 | upstream gene variant | T/G | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | 10 | 6430929 | missense variant | G/C;T | snv | 4.0E-06; 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 10 | 6081532 | intergenic variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 16 | 20331250 | upstream gene variant | T/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 8 | 118965098 | intergenic variant | A/G | snv | 0.36 |
|
0.800 | 1.000 | 1 | 2011 | 2011 | ||||||||
|
0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.882 | 0.240 | 16 | 11100914 | intron variant | C/A;T | snv | 0.29 |
|
0.800 | 1.000 | 1 | 2011 | 2015 | ||||||||
|
0.925 | 0.160 | 14 | 68796882 | upstream gene variant | T/C | snv | 0.70 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 17 | 7730374 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.776 | 0.400 | 6 | 32395438 | intron variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.827 | 0.240 | 6 | 31396930 | upstream gene variant | G/A | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
1.000 | 0.120 | 1 | 63643100 | intron variant | T/C | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.732 | 0.360 | 19 | 10364976 | missense variant | C/A | snv | 0.27 | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2011 | |||||||
|
0.827 | 0.280 | 6 | 30110498 | missense variant | C/T | snv | 0.12 | 0.12 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | |||||||
|
0.882 | 0.240 | 6 | 32700133 | intergenic variant | G/A | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
1.000 | 0.120 | X | 154717327 | intron variant | G/A | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.320 | 6 | 31600692 | intergenic variant | G/A | snv | 0.27 |
|
0.800 | 1.000 | 1 | 2007 | 2015 | ||||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2009 | 2015 | ||||||||
|
1.000 | 0.120 | 11 | 2148544 | non coding transcript exon variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2007 | 2007 | |||||||||
|
0.827 | 0.320 | 6 | 90247744 | intron variant | C/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2009 | 2009 |