| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
18 | 46139716 | intergenic variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2016 | |||||||||||
|
19 | 12890733 | upstream gene variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
16 | 259156 | intron variant | C/A | snv | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2013 | ||||||||||
|
1 | 3774964 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
3 | 196089324 | intergenic variant | C/T | snv | 0.42 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
6 | 30160096 | intron variant | C/T | snv | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
16 | 248589 | intron variant | A/G | snv | 3.8E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2017 | ||||||||||
|
1 | 203682799 | 5 prime UTR variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2013 | |||||||||||
|
8 | 42537799 | non coding transcript exon variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
6 | 26107235 | downstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
1 | 158617176 | intron variant | A/T | snv | 0.28 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
7 | 100642673 | intron variant | A/G | snv | 0.65 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
17 | 44216969 | intron variant | A/C | snv | 0.52 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
22 | 37110640 | upstream gene variant | T/C | snv | 0.40 |
|
0.800 | 1.000 | 1 | 2012 | 2016 | ||||||||||
|
22 | 37074184 | intron variant | T/C | snv | 0.61 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||||
|
16 | 88783013 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
19 | 43758393 | upstream gene variant | A/G | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
3 | 196080754 | intron variant | T/C | snv | 0.49 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
1.000 | 0.080 | 8 | 41772887 | intron variant | G/A | snv | 0.33 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
6 | 16287961 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2016 | |||||||||||
|
1 | 203685993 | intron variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||||
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
0.882 | 0.160 | 9 | 133255935 | missense variant | G/A;T | snv | 4.1E-06; 0.12 |
|
0.800 | 1.000 | 1 | 2010 | 2012 | ||||||||
|
1.000 | 0.040 | 9 | 133255801 | synonymous variant | C/T | snv | 0.12 | 0.11 |
|
0.800 | 1.000 | 1 | 2012 | 2018 |