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 | 8 | 117172786 | 3 prime UTR variant | G/A | snv | 0.24 |
|
0.820 | 1.000 | 8 | 2008 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 12265895 | TF binding site variant | C/T | snv | 0.23 |
|
0.800 | 1.000 | 7 | 2013 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 2825839 | intron variant | T/G | snv | 0.40 |
|
0.810 | 1.000 | 7 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 72722053 | 5 prime UTR variant | A/C | snv | 0.12 |
|
0.820 | 1.000 | 6 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 11 | 2670241 | non coding transcript exon variant | A/G | snv | 0.62 |
|
0.840 | 1.000 | 6 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 6 | 20687890 | intron variant | T/A;G | snv | 0.26 |
|
0.820 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 17 | 7285729 | missense variant | G/A;C | snv | 4.2E-03; 4.0E-06 |
|
0.700 | 1.000 | 5 | 1991 | 2013 | ||||||||
|
1.000 | 0.080 | 19 | 7120707 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 |
|
0.800 | 1.000 | 5 | 1992 | 2013 | |||||||
|
1.000 | 0.080 | 13 | 80143021 | intergenic variant | G/A | snv | 0.23 |
|
0.810 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 14858657 | intron variant | C/T | snv | 0.18 |
|
0.800 | 1.000 | 5 | 2012 | 2019 | ||||||||
|
1.000 | 0.080 | 11 | 2837210 | intron variant | G/A;T | snv |
|
0.810 | 1.000 | 5 | 2011 | 2019 | |||||||||
|
0.882 | 0.080 | 1 | 213985913 | non coding transcript exon variant | T/C | snv | 0.40 |
|
0.830 | 1.000 | 5 | 2010 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 77129124 | intron variant | G/A | snv | 0.74 |
|
0.800 | 1.000 | 5 | 2010 | 2017 | ||||||||
|
0.925 | 0.080 | 15 | 62104190 | intergenic variant | A/G | snv | 0.51 |
|
0.800 | 1.000 | 5 | 2010 | 2017 | ||||||||
|
0.925 | 0.080 | 3 | 23294959 | intron variant | C/A;G | snv |
|
0.840 | 0.889 | 5 | 2010 | 2018 | |||||||||
|
0.882 | 0.080 | 3 | 123346931 | intron variant | A/G | snv | 0.19 |
|
0.840 | 0.875 | 4 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 19 | 40237979 | missense variant | C/T | snv |
|
0.800 | 1.000 | 4 | 2004 | 2013 | |||||||||
|
1.000 | 0.080 | 9 | 79337213 | intergenic variant | C/G;T | snv |
|
0.800 | 1.000 | 4 | 2010 | 2017 | |||||||||
|
1.000 | 0.080 | 3 | 23413299 | intron variant | A/G | snv | 0.26 |
|
0.800 | 1.000 | 4 | 2011 | 2019 | ||||||||
|
1.000 | 0.080 | 4 | 6301295 | missense variant | C/A;G;T | snv | 0.67 |
|
0.810 | 1.000 | 4 | 2010 | 2018 | ||||||||
|
1.000 | 0.080 | 12 | 65818538 | intron variant | C/T | snv | 0.13 |
|
0.800 | 1.000 | 4 | 2012 | 2018 | ||||||||
|
1.000 | 0.080 | 2 | 60357684 | intron variant | G/A | snv | 0.45 |
|
0.820 | 1.000 | 4 | 2010 | 2017 | ||||||||
|
1.000 | 0.080 | 10 | 112994312 | intron variant | T/C | snv | 0.29 |
|
0.700 | 1.000 | 4 | 2014 | 2018 | ||||||||
|
1.000 | 0.080 | 8 | 41661730 | non coding transcript exon variant | T/A;C | snv | 0.78 |
|
0.820 | 1.000 | 4 | 2012 | 2018 | ||||||||
|
0.925 | 0.080 | X | 153634467 | regulatory region variant | A/G | snv | 0.25 |
|
0.810 | 1.000 | 4 | 2010 | 2014 |