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 | 1 | 202086810 | intergenic variant | A/G | snv | 0.77 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 18 | 56267556 | regulatory region variant | A/C;G;T | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | 18 | 58242398 | intron variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 203199346 | intergenic variant | A/T | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 18 | 56261410 | intergenic variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2000 | 2000 | |||||||||
|
1.000 | 0.080 | 1 | 202082885 | TF binding site variant | T/A | snv | 0.80 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 203190998 | upstream gene variant | G/T | snv | 0.84 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
1.000 | 0.080 | 1 | 203196253 | intergenic variant | G/A | snv | 0.86 |
|
0.700 | 1.000 | 1 | 2000 | 2000 | ||||||||
|
0.732 | 0.440 | 17 | 39913696 | intron variant | C/T | snv | 0.60 |
|
0.900 | 0.889 | 4 | 2007 | 2018 | ||||||||
|
0.763 | 0.280 | 17 | 39905943 | missense variant | G/A | snv | 0.40 | 0.35 |
|
0.860 | 0.900 | 4 | 2008 | 2018 | |||||||
|
0.807 | 0.200 | 17 | 39926554 | 5 prime UTR variant | T/C | snv | 0.49 |
|
0.730 | 1.000 | 1 | 2008 | 2017 | ||||||||
|
0.925 | 0.080 | 17 | 39910767 | intron variant | C/T | snv | 0.36 |
|
0.710 | 1.000 | 1 | 2008 | 2011 | ||||||||
|
0.882 | 0.080 | 17 | 39900944 | downstream gene variant | G/A;T | snv |
|
0.740 | 1.000 | 1 | 2008 | 2018 | |||||||||
|
1.000 | 0.080 | 5 | 60073967 | intron variant | A/G;T | snv |
|
0.800 | 1.000 | 3 | 2009 | 2011 | |||||||||
|
1.000 | 0.080 | 8 | 27462388 | intron variant | C/T | snv | 4.0E-02 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.080 | 5 | 60088059 | intron variant | A/G | snv | 0.28 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.080 | 5 | 60149310 | intron variant | C/T | snv | 0.68 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.080 | 5 | 60143255 | intron variant | T/A;C | snv |
|
0.710 | 1.000 | 1 | 2009 | 2016 | |||||||||
|
0.882 | 0.120 | 17 | 39965740 | missense variant | G/A | snv | 0.46 | 0.41 |
|
0.810 | 1.000 | 4 | 2010 | 2014 | |||||||
|
0.925 | 0.080 | 15 | 60777789 | intron variant | C/T | snv | 0.23 |
|
0.820 | 1.000 | 3 | 2010 | 2019 | ||||||||
|
0.882 | 0.160 | 5 | 132660151 | intron variant | T/A;C | snv | 0.68 |
|
0.840 | 1.000 | 3 | 2010 | 2018 | ||||||||
|
0.790 | 0.360 | 9 | 6190076 | intergenic variant | A/C | snv | 0.21 |
|
0.840 | 1.000 | 3 | 2010 | 2020 | ||||||||
|
0.790 | 0.240 | 5 | 111066174 | upstream gene variant | T/C | snv | 0.72 |
|
0.840 | 0.929 | 3 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 132387596 | intron variant | T/C | snv | 0.46 |
|
0.800 | 1.000 | 3 | 2010 | 2012 |