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 | 0.120 | 12 | 11394598 | intron variant | A/G | snv | 0.12 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | ||||||||
|
0.531 | 0.720 | 6 | 52236941 | missense variant | T/C | snv | 6.7E-02 | 6.6E-02 |
|
0.800 | 1.000 | 2 | 2012 | 2017 | |||||||
|
0.882 | 0.160 | 9 | 87620879 | intron variant | A/C | snv | 0.25 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.120 | 18 | 51078285 | missense variant | G/C | snv |
|
0.800 | 0 | ||||||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.740 | 1.000 | 7 | 2010 | 2018 | ||||||||
|
0.689 | 0.520 | 9 | 133273813 | intron variant | C/T | snv |
|
0.740 | 1.000 | 6 | 2009 | 2018 | |||||||||
|
0.492 | 0.680 | 12 | 25245350 | missense variant | C/A;G;T | snv | 4.0E-06 |
|
0.740 | 1.000 | 4 | 2003 | 2019 | ||||||||
|
0.882 | 0.200 | 1 | 200038304 | intron variant | A/C;G | snv |
|
0.730 | 1.000 | 5 | 2010 | 2018 | |||||||||
|
0.724 | 0.280 | 17 | 72404025 | non coding transcript exon variant | C/T | snv | 0.16 |
|
0.720 | 1.000 | 3 | 2015 | 2019 | ||||||||
|
0.807 | 0.280 | 8 | 128555832 | intron variant | C/T | snv | 0.65 |
|
0.710 | 1.000 | 3 | 2014 | 2019 | ||||||||
|
0.882 | 0.120 | 18 | 59211042 | intergenic variant | C/T | snv | 0.23 |
|
0.710 | 0.500 | 2 | 2015 | 2018 | ||||||||
|
0.925 | 0.120 | 1 | 959193 | intron variant | G/A | snv | 0.82 | 0.69 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | |||||||
|
0.851 | 0.240 | 8 | 75558169 | intron variant | G/A | snv | 0.65 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.925 | 0.120 | 17 | 37718512 | intron variant | A/G | snv | 0.82 |
|
0.710 | < 0.001 | 1 | 2018 | 2018 | ||||||||
|
0.882 | 0.200 | 13 | 73342491 | regulatory region variant | C/G;T | snv |
|
0.700 | 1.000 | 4 | 2010 | 2018 | |||||||||
|
1.000 | 0.120 | 13 | 27919860 | upstream gene variant | G/A | snv | 0.31 |
|
0.700 | 1.000 | 3 | 2014 | 2018 | ||||||||
|
0.882 | 0.200 | 8 | 127707639 | intron variant | A/T | snv | 0.33 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.120 | 2 | 67412637 | downstream gene variant | G/C;T | snv |
|
0.700 | 1.000 | 2 | 2015 | 2018 | |||||||||
|
1.000 | 0.120 | 22 | 28904318 | intron variant | C/T | snv | 0.13 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
1.000 | 0.120 | 7 | 40827064 | intron variant | C/A | snv | 0.20 |
|
0.700 | 1.000 | 2 | 2015 | 2018 | ||||||||
|
0.600 | 0.600 | 5 | 1293971 | synonymous variant | C/T | snv | 0.29 | 0.22 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | |||||||
|
1.000 | 0.120 | 1 | 200016240 | upstream gene variant | T/A | snv | 0.37 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.120 | 5 | 1295258 | upstream gene variant | C/T | snv | 2.6E-02 |
|
0.700 | 1.000 | 2 | 2016 | 2018 | ||||||||
|
1.000 | 0.120 | 7 | 130995762 | intron variant | T/C | snv | 0.15 |
|
0.700 | 1.000 | 2 | 2014 | 2018 | ||||||||
|
1.000 | 0.120 | 16 | 75229763 | synonymous variant | G/A | snv | 5.1E-02 | 0.11 |
|
0.700 | 1.000 | 2 | 2014 | 2018 |