| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.882 | 0.120 | 16 | 56951227 | regulatory region variant | A/G | snv | 0.55 |
|
0.800 | 1.000 | 6 | 2008 | 2019 | ||||||||
|
1.000 | 0.040 | 8 | 9325848 | non coding transcript exon variant | A/G | snv | 0.87 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
6 | 43790159 | downstream gene variant | C/A | snv | 0.41 |
|
0.800 | 1.000 | 1 | 2013 | 2019 | ||||||||||
|
21 | 26125180 | intron variant | G/A | snv | 1.1E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
21 | 33267925 | intron variant | C/G | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
12 | 20535707 | intron variant | A/T | snv | 0.99 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 42568548 | intron variant | G/A | snv | 5.0E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
16 | 56973280 | intron variant | T/C | snv | 5.9E-02 | 7.3E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
16 | 56983090 | intron variant | T/G | snv | 0.10 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | ||||||||||
|
17 | 44277325 | intron variant | G/A | snv | 1.9E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
17 | 12763404 | synonymous variant | C/G;T | snv | 6.5E-03; 4.1E-06 | 2.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
17 | 41710043 | upstream gene variant | A/G | snv | 3.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
3 | 127797551 | intron variant | C/T | snv | 7.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
3 | 50243648 | intron variant | G/C | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
10 | 45517829 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2018 | |||||||||||
|
12 | 117318980 | intron variant | G/C | snv | 9.4E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 35397017 | intron variant | C/T | snv | 8.6E-04 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
8 | 19967385 | downstream gene variant | T/A;G | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
0.716 | 0.440 | 11 | 116778201 | 3 prime UTR variant | G/C | snv | 0.82 |
|
0.800 | 1.000 | 6 | 2009 | 2019 | ||||||||
|
22 | 35377961 | upstream gene variant | A/G | snv | 3.7E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1 | 50445675 | intron variant | C/T | snv | 3.2E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
13 | 95205263 | intron variant | G/T | snv | 3.4E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 20635589 | intron variant | C/T | snv | 9.3E-03 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |