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 | 15 | 67127649 | intron variant | C/T | snv | 0.27 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
1.000 | 0.080 | 15 | 67071235 | intron variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 6 | 113961317 | intron variant | G/A | snv | 0.22 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.882 | 0.120 | 11 | 1996938 | non coding transcript exon variant | C/A;T | snv | 7.0E-06; 0.41 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.641 | 0.480 | 11 | 1995678 | non coding transcript exon variant | G/A | snv | 0.20 |
|
0.010 | 1.000 | 1 | 2020 | 2020 | ||||||||
|
0.662 | 0.520 | 11 | 1997623 | non coding transcript exon variant | G/A | snv | 0.41 |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | ||||||||
|
0.925 | 0.160 | 11 | 2003453 | upstream gene variant | C/A | snv |
|
0.010 | < 0.001 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 4 | 23875164 | intron variant | T/A;C | snv |
|
0.010 | 1.000 | 1 | 2020 | 2020 | |||||||||
|
1.000 | 0.080 | 6 | 117359856 | missense variant | C/T | snv | 1.4E-05 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 7 | 87539293 | missense variant | A/G | snv | 6.4E-05 | 1.0E-04 |
|
0.020 | 1.000 | 2 | 2019 | 2019 | |||||||
|
0.827 | 0.080 | 8 | 127014165 | intron variant | G/A;C | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.925 | 0.080 | 9 | 21787522 | intergenic variant | G/A | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.851 | 0.080 | 10 | 133391446 | stop gained | C/A;G;T | snv | 1.2E-05; 0.88 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.627 | 0.640 | 21 | 45537880 | missense variant | T/C;G | snv | 0.55; 4.4E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.790 | 0.120 | 7 | 55174029 | missense variant | G/A | snv | 7.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.637 | 0.520 | 11 | 14893332 | upstream gene variant | A/G | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 12 | 20892760 | intron variant | A/G | snv | 0.17 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.882 | 0.080 | 3 | 189625454 | intergenic variant | A/-;AA;AAA;AAAA | delins |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
0.925 | 0.080 | 14 | 34823979 | intron variant | C/T | snv | 0.87 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 10 | 112728166 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 16 | 2076130 | missense variant | G/A;T | snv | 4.0E-06 |
|
0.010 | 1.000 | 1 | 2019 | 2019 | ||||||||
|
1.000 | 0.080 | 5 | 1280362 | intron variant | G/A | snv | 0.13 | 0.11 |
|
0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
0.807 | 0.080 | 19 | 1206957 | missense variant | G/A | snv |
|
0.010 | 1.000 | 1 | 2019 | 2019 | |||||||||
|
1.000 | 0.080 | 12 | 113057841 | 5 prime UTR variant | G/A | snv | 0.65 |
|
0.010 | 1.000 | 1 | 2019 | 2019 |