| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.320 | 16 | 56960982 | upstream gene variant | G/A | snv | 0.48 | 0.47 |
|
0.800 | 1.000 | 1 | 2012 | 2019 | |||||||
|
1.000 | 0.040 | 20 | 45916409 | upstream gene variant | C/T | snv | 0.68 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 44873027 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2011 | 2011 | |||||||||
|
2 | 21011100 | missense variant | T/C | snv | 3.1E-02 | 2.9E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
15 | 58438299 | intron variant | C/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2013 | |||||||||||
|
0.724 | 0.360 | 1 | 109279544 | downstream gene variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
8 | 19949120 | intron variant | T/C | snv | 8.4E-02 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||||
|
0.716 | 0.360 | 11 | 47264739 | intron variant | T/C | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2009 | 2012 | ||||||||
|
18 | 49632720 | intergenic variant | A/G | snv | 0.86 |
|
0.800 | 1.000 | 1 | 2008 | 2008 | ||||||||||
|
0.882 | 0.080 | 11 | 48497341 | downstream gene variant | A/G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.160 | 8 | 20008763 | intergenic variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2016 | |||||||||
|
0.925 | 0.160 | 20 | 45947863 | 3 prime UTR variant | T/C | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
16 | 56966372 | intron variant | G/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||||
|
1.000 | 0.040 | 17 | 2525214 | intergenic variant | C/T | snv | 0.17 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 16 | 56968820 | intron variant | T/G | snv | 0.75 |
|
0.800 | 1.000 | 1 | 2012 | 2018 | ||||||||
|
5 | 173965395 | downstream gene variant | A/T | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 143221248 | downstream gene variant | G/A | snv | 0.37 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 29502788 | intergenic variant | A/C | snv | 0.57 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 65048915 | intron variant | T/C | snv | 0.51 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
8 | 19970337 | downstream gene variant | C/A | snv | 0.42 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||||
|
1 | 172377408 | intron variant | G/A | snv | 0.46 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1 | 230160042 | intron variant | A/G;T | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||||
|
1.000 | 0.080 | 2 | 164651879 | downstream gene variant | C/T | snv | 0.48 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||
|
2 | 101025798 | intron variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
2 | 85333439 | upstream gene variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2018 | 2018 |