| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 46128709 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
6 | 30160096 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
1 | 203682799 | 5 prime UTR variant | T/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2013 | |||||||||||
|
8 | 42537799 | non coding transcript exon variant | C/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||||||
|
6 | 26107235 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||||||
|
1 | 158617176 | intron variant | A/T | snv | 0.28 |
|
0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
17 | 44216969 | intron variant | A/C | snv | 0.52 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
22 | 37110640 | upstream gene variant | T/C | snv | 0.40 |
|
0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
16 | 88783013 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||||||
|
19 | 43758393 | upstream gene variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
3 | 196080754 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
1.000 | 0.080 | 8 | 41772887 | intron variant | G/A | snv | 0.33 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
6 | 16287961 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 2 | 2012 | 2016 | |||||||||||
|
1 | 203685993 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||||||
|
1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | |||||||
|
1 | 158605939 | intron variant | C/T | snv | 0.24 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
1.000 | 0.080 | 19 | 4502189 | 3 prime UTR variant | T/C;G | snv | 0.51; 1.8E-05 |
|
0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||
|
3 | 196194440 | downstream gene variant | G/A | snv | 0.13 |
|
0.800 | 1.000 | 2 | 2012 | 2016 | ||||||||||
|
6 | 135090090 | intron variant | T/C | snv | 0.19 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||||
|
6 | 109287294 | intron variant | C/T | snv | 0.51 |
|
0.700 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
17 | 44228331 | downstream gene variant | G/A | snv | 0.45 |
|
0.800 | 1.000 | 2 | 2012 | 2018 | ||||||||||
|
4 | 86970413 | intron variant | A/G | snv | 0.76 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
4 | 121803449 | intron variant | G/A | snv | 0.30 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |