| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 22132699 | downstream gene variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 171017310 | intron variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
20 | 22611792 | upstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 168910638 | intron variant | T/C | snv | 5.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 44964941 | intron variant | G/C | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 172727935 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 92989595 | downstream gene variant | G/A | snv | 0.55 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
2 | 168907981 | missense variant | T/C | snv | 5.1E-03 | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
11 | 2714304 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
7 | 44166307 | intron variant | A/C | snv | 0.44 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
13 | 27936575 | intergenic variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 4285119 | intron variant | C/G;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
11 | 2836003 | intron variant | G/A | snv | 0.12 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1 | 200273504 | intron variant | G/A | snv | 0.11 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
7 | 44192287 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 18774816 | non coding transcript exon variant | C/T | snv | 1.6E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
12 | 111280427 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
5 | 75741470 | intergenic variant | C/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||||
|
1 | 119749667 | intron variant | T/G | snv | 8.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 0.080 | 7 | 15024208 | intergenic variant | T/A;G | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
1.000 | 0.080 | 10 | 113048313 | intron variant | T/C | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 3 | 185789511 | intron variant | A/T | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 15025987 | intergenic variant | A/T | snv | 0.55 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 7 | 14858657 | intron variant | C/T | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
1.000 | 0.080 | 6 | 39065819 | missense variant | G/A;C;T | snv | 3.6E-02 | 1.2E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |