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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
7 | 38096675 | intergenic variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
11 | 31189224 | intron variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.080 | 12 | 53334171 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||
|
8 | 118995181 | upstream gene variant | T/A | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2009 | 2013 | ||||||||||
|
17 | 44148179 | missense variant | A/C | snv | 0.40 | 0.48 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
17 | 44115817 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
1.000 | 0.080 | 8 | 119051303 | intron variant | T/C | snv | 0.59 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||
|
1 | 68169707 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
X | 86937000 | intergenic variant | G/T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 151688503 | intron variant | A/G | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.882 | 0.120 | 18 | 62414860 | upstream gene variant | A/G | snv | 0.67 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
6 | 151689119 | intron variant | A/C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
0.851 | 0.200 | 6 | 32276850 | intron variant | T/C | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||
|
2 | 54432570 | regulatory region variant | C/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
8 | 119001037 | intron variant | C/T | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2009 | 2014 | ||||||||||
|
7 | 96488606 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 151586613 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
11 | 68424878 | intron variant | T/G | snv | 0.34 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.080 | 1 | 22384980 | intergenic variant | G/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
7 | 96504803 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2018 | |||||||||||
|
1.000 | 0.080 | 4 | 87852697 | regulatory region variant | T/G | snv | 0.66 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
1 | 22379941 | regulatory region variant | C/T | snv | 0.20 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
6 | 151574321 | intron variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2013 | |||||||||||
|
7 | 38088724 | intergenic variant | T/C;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2012 | |||||||||||
|
1.000 | 0.080 | 11 | 15672916 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 |