| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.724 | 0.400 | 15 | 89323426 | missense variant | C/G | snv | 9.7E-04 | 7.9E-04 |
|
0.720 | 1.000 | 1 | 2006 | 2017 | |||||||
|
0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv |
|
0.710 | 1.000 | 1 | 2007 | 2017 | |||||||||
|
0.925 | 0.040 | 19 | 1244118 | missense variant | T/G | snv |
|
0.710 | 1.000 | 1 | 2018 | 2018 | |||||||||
|
0.851 | 0.200 | MT | 15923 | non coding transcript exon variant | A/G | snv |
|
0.700 | 1.000 | 4 | 1993 | 2018 | |||||||||
|
0.752 | 0.360 | MT | 3243 | non coding transcript exon variant | A/G | snv |
|
0.700 | 1.000 | 2 | 2001 | 2004 | |||||||||
|
1.000 | 0.200 | 10 | 100989285 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.200 | 10 | 100989352 | missense variant | T/C;G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
0.925 | 0.080 | 15 | 89317469 | missense variant | C/T | snv | 8.0E-06 | 1.4E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
0.827 | 0.080 | 15 | 89325639 | missense variant | G/A | snv | 1.5E-03 | 1.6E-03 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||
|
1.000 | 6 | 151405236 | stop lost | C/G;T | snv | 2.0E-05; 4.0E-03 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
0.807 | 0.240 | 15 | 89323460 | missense variant | C/G;T | snv | 6.9E-04; 4.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||
|
12 | 32750105 | missense variant | C/G;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 6 | 151430154 | missense variant | T/C | snv | 2.0E-04 | 2.4E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | ||||||||
|
3 | 193643430 | missense variant | C/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
5 | 74758878 | missense variant | T/G | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
10 | 100989213 | missense variant | C/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
0.807 | 0.320 | 10 | 100989331 | missense variant | G/A | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
1.000 | 0.200 | 10 | 100989774 | splice acceptor variant | G/T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||
|
10 | 100989791 | missense variant | T/C | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | |||||||||||
|
14 | 22768050 | frameshift variant | -/CAGAGCAG | delins |
|
0.700 | 1.000 | 1 | 2018 | 2018 | |||||||||||
|
1.000 | 3 | 101565323 | missense variant | G/A;T | snv | 4.0E-06; 1.1E-04 |
|
0.700 | 1.000 | 1 | 2016 | 2016 | |||||||||
|
17 | 18305208 | stop gained | G/A;T | snv | 1.0E-04 |
|
0.700 | 1.000 | 1 | 2018 | 2018 | ||||||||||
|
1.000 | 10 | 100989211 | missense variant | G/A;T | snv |
|
0.700 | 1.000 | 1 | 2017 | 2017 | ||||||||||
|
1.000 | 0.080 | 16 | 89550502 | stop gained | A/T | snv | 1.4E-04 | 9.8E-05 |
|
0.700 | 1.000 | 1 | 2017 | 2017 |