| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.776 | 0.360 | 16 | 53796553 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||
|
0.763 | 0.280 | 12 | 112207597 | intron variant | G/A | snv | 3.8E-03 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.120 | 6 | 32396178 | synonymous variant | T/C | snv | 0.41 | 0.39 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
1 | 219577375 | regulatory region variant | G/T | snv | 0.23 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | ||||||||||
|
1.000 | 0.080 | 3 | 52472410 | intron variant | C/T | snv | 0.96 | 0.96 |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.882 | 0.120 | 3 | 64719689 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
11 | 132771851 | non coding transcript exon variant | T/G | snv | 0.26 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
10 | 129702676 | intron variant | G/C | snv | 0.38 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
16 | 15788110 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
0.882 | 0.120 | 1 | 219580167 | regulatory region variant | T/C | snv | 0.23 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||
|
1 | 219519878 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
X | 14932409 | intergenic variant | A/G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
2 | 164683151 | 3 prime UTR variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
6 | 7217284 | non coding transcript exon variant | C/T | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
2 | 75232542 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
6 | 127188012 | intron variant | G/A | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
13 | 101575144 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||||
|
6 | 127131494 | intron variant | C/G | snv | 0.45 |
|
0.800 | 1.000 | 2 | 2010 | 2015 | ||||||||||
|
7 | 25818994 | intergenic variant | C/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
3 | 129615390 | intergenic variant | C/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
12 | 26334350 | intron variant | G/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
0.807 | 0.240 | 16 | 53775335 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2015 | 2015 | |||||||||
|
18 | 60208994 | intergenic variant | T/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2015 | 2015 | ||||||||||
|
8 | 23709950 | intron variant | C/T | snv | 0.25 |
|
0.700 | 1.000 | 1 | 2015 | 2015 |