| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.925 | 0.080 | 7 | 151717955 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
10 | 69333636 | intron variant | C/T | snv | 0.12 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
0.851 | 0.120 | 7 | 100638347 | intron variant | C/A | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
6 | 135114363 | intergenic variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
21 | 33982222 | downstream gene variant | T/C | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 2414189 | intron variant | A/G | snv | 0.34 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
2 | 46128709 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
11 | 5281833 | intron variant | G/A;T | snv | 4.2E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
X | 154536448 | intron variant | C/T | snv | 4.7E-02 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
4 | 76492991 | intron variant | T/A;C | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1.000 | 0.080 | 3 | 52506757 | synonymous variant | T/C | snv | 0.53 | 0.59 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||
|
0.776 | 0.240 | 19 | 19296909 | intron variant | T/C | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
2 | 46126027 | intron variant | A/G | snv | 0.36 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
3 | 169450583 | intron variant | AAA/-;A;AA;AAAA;AAAAA | delins |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
9 | 133252613 | non coding transcript exon variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
11 | 47866484 | intergenic variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
15 | 76006403 | intron variant | A/G | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
16 | 70923707 | intron variant | G/A | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 10297748 | intron variant | G/C | snv | 5.8E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 46066687 | intron variant | C/T | snv | 7.2E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
6 | 2050557 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||||
|
17 | 59748211 | intron variant | A/C | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
19 | 40760574 | intron variant | A/G | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
2 | 121238062 | intron variant | G/C | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2016 | 2016 |