| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.080 | 6 | 135097497 | intron variant | C/T | snv | 6.9E-02 |
|
0.800 | 1.000 | 3 | 2009 | 2013 | ||||||||
|
0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | |||||||
|
6 | 41937537 | intron variant | G/A;T | snv |
|
0.800 | 1.000 | 2 | 2010 | 2013 | |||||||||||
|
0.851 | 0.160 | 22 | 37073551 | missense variant | G/A;C | snv | 0.53; 4.0E-06 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
0.925 | 0.080 | 6 | 135105435 | upstream gene variant | A/G | snv | 0.21 |
|
0.800 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
6 | 139514552 | intron variant | C/T | snv | 0.51 |
|
0.800 | 1.000 | 2 | 2012 | 2013 | ||||||||||
|
0.701 | 0.400 | 22 | 37066896 | missense variant | A/G;T | snv | 0.57; 4.0E-06 |
|
0.800 | 1.000 | 2 | 2010 | 2019 | ||||||||
|
0.851 | 0.320 | 6 | 135097880 | intron variant | T/C | snv | 0.20 |
|
0.800 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
9 | 4856877 | intron variant | G/A | snv | 0.15 |
|
0.800 | 1.000 | 1 | 2009 | 2017 | ||||||||||
|
6 | 41953503 | intron variant | G/T | snv | 0.13 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 22 | 32479203 | start lost | G/A;C | snv | 0.45; 8.0E-06 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.280 | 6 | 31635993 | synonymous variant | A/G | snv | 0.14 | 0.17 |
|
0.700 | 1.000 | 1 | 2013 | 2013 | |||||||
|
10 | 45529281 | intron variant | A/G | snv | 0.31 |
|
0.800 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
1.000 | 0.040 | 16 | 190281 | intron variant | A/C;T | snv |
|
0.800 | 1.000 | 1 | 2013 | 2013 | |||||||||
|
6 | 41824807 | intron variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
7 | 50360730 | intron variant | C/A;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
6 | 26125114 | intron variant | C/T | snv | 0.91 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 37042611 | regulatory region variant | G/T | snv | 0.47 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
22 | 50533323 | upstream gene variant | A/C;G;T | snv |
|
0.800 | 1.000 | 1 | 2009 | 2009 | |||||||||||
|
1.000 | 0.040 | 6 | 27069301 | intergenic variant | C/T | snv | 4.8E-02 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
6 | 135122074 | intergenic variant | A/G | snv | 0.35 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
6 | 135074410 | intron variant | G/A | snv | 0.41 |
|
0.700 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
0.851 | 0.160 | 22 | 50532837 | upstream gene variant | T/A;C | snv |
|
0.800 | 1.000 | 1 | 2012 | 2018 | |||||||||
|
6 | 25842723 | intron variant | T/G | snv | 4.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||||
|
22 | 37091770 | intron variant | A/G | snv | 0.45 |
|
0.700 | 1.000 | 1 | 2012 | 2012 |