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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 173081132 | intergenic variant | -/A | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
15 | 58426498 | intron variant | -/A | delins | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 107817853 | intron variant | -/C | ins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 2772731 | intergenic variant | -/C | ins | 8.1E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 41756060 | intron variant | -/C | ins | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61653517 | downstream gene variant | -/CTCTG | ins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
10 | 98397611 | intron variant | -/CTG | delins |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||||
|
11 | 61150558 | intron variant | -/G | ins | 3.2E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61144420 | non coding transcript exon variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
16 | 56962246 | 5 prime UTR variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 19275329 | intron variant | -/G | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
5 | 65982680 | intron variant | -/GACTG | ins | 0.82 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 186217309 | intron variant | -/GTT | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
4 | 64155298 | intergenic variant | -/TA;TATACATA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
11 | 61653518 | downstream gene variant | -/TCTCTGG;TCTGG | ins | 0.83 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 186257634 | intron variant | -/TGT;TTT | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
22 | 19269948 | intron variant | A/-;AA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 111199828 | intron variant | A/-;AA;AAA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
6 | 111199828 | intron variant | A/-;AA;AAA;AAAA;AAAAA | delins | 0.22 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61784455 | non coding transcript exon variant | A/C | snv | 0.29 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
14 | 53665936 | intron variant | A/C | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
12 | 27400808 | intron variant | A/C | snv | 0.19 | 0.13 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
9 | 6330380 | 3 prime UTR variant | A/C | snv | 0.17 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 111299091 | 3 prime UTR variant | A/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 127467534 | intergenic variant | A/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2013 | 2013 |