| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 87254878 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
10 | 112189906 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 36922355 | intron variant | T/A;C | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 95446682 | 3 prime UTR variant | C/T | snv | 1.8E-02 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 100101678 | downstream gene variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
19 | 40827379 | intron variant | T/C | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
3 | 120706484 | intron variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||||
|
7 | 28139639 | intron variant | C/A | snv | 0.10 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 232655544 | intron variant | A/T | snv | 0.59 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 56792072 | intergenic variant | C/T | snv | 5.7E-02 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
5 | 85922051 | intergenic variant | T/C | snv | 0.79 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
9 | 6665010 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
2 | 204118831 | intergenic variant | T/C | snv | 3.6E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
11 | 61806212 | 5 prime UTR variant | T/C | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 149707970 | intron variant | C/T | snv | 8.6E-02 |
|
0.800 | 1.000 | 1 | 2013 | 2013 | ||||||||||
|
6 | 33893066 | intron variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 82800066 | intergenic variant | A/G | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2007 | 2007 | ||||||||||
|
8 | 144505033 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 1.0E-04 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
6 | 6669940 | intergenic variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 35734507 | downstream gene variant | G/A | snv | 0.29 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 183389270 | intron variant | C/T | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
2 | 169013785 | intron variant | C/A;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
9 | 27869512 | intergenic variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
22 | 43928975 | intron variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
10 | 96700824 | non coding transcript exon variant | G/A | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2018 | 2018 |