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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 |
|
0.100 | 0.902 | 61 | 2002 | 2019 | |||||||
|
0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 |
|
0.100 | 0.878 | 49 | 2001 | 2019 | |||||||
|
0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 |
|
0.100 | 0.833 | 48 | 2003 | 2020 | ||||||||
|
0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv |
|
0.100 | 0.833 | 42 | 2003 | 2018 | |||||||||
|
0.662 | 0.440 | 16 | 52552429 | non coding transcript exon variant | A/G | snv | 0.63 |
|
0.800 | 0.950 | 40 | 2007 | 2019 | ||||||||
|
0.645 | 0.280 | 17 | 39723335 | missense variant | A/G;T | snv | 0.20 |
|
0.100 | 0.895 | 38 | 2000 | 2018 | ||||||||
|
0.695 | 0.360 | 10 | 121592803 | intron variant | A/G | snv | 0.58 |
|
0.800 | 0.971 | 35 | 2007 | 2019 | ||||||||
|
0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv |
|
0.100 | 0.813 | 32 | 2004 | 2019 | |||||||||
|
0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 |
|
0.100 | 0.800 | 30 | 2000 | 2019 | |||||||
|
0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 |
|
0.100 | 0.862 | 29 | 1997 | 2019 | |||||||
|
0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 |
|
0.800 | 0.929 | 28 | 2001 | 2016 | ||||||||
|
0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 |
|
0.100 | 0.889 | 27 | 2003 | 2019 | |||||||
|
0.708 | 0.280 | 6 | 151627231 | intergenic variant | G/A | snv | 0.41 |
|
0.800 | 1.000 | 26 | 2009 | 2019 | ||||||||
|
1.000 | 0.080 | 13 | 32319167 | missense variant | A/G | snv |
|
0.700 | 1.000 | 25 | 1997 | 2014 | |||||||||
|
1.000 | 0.080 | 13 | 32337891 | missense variant | G/A | snv | 4.0E-06 |
|
0.700 | 1.000 | 25 | 1997 | 2014 | ||||||||
|
1.000 | 0.080 | 13 | 32339543 | missense variant | A/T | snv | 8.2E-06 |
|
0.700 | 1.000 | 25 | 1997 | 2014 | ||||||||
|
1.000 | 0.080 | 13 | 32326584 | missense variant | C/G;T | snv |
|
0.700 | 1.000 | 25 | 1997 | 2014 | |||||||||
|
1.000 | 0.080 | 13 | 32340739 | missense variant | A/C;G | snv |
|
0.700 | 1.000 | 25 | 1997 | 2014 | |||||||||
|
1.000 | 0.080 | 13 | 32329475 | missense variant | C/T | snv |
|
0.700 | 1.000 | 25 | 1997 | 2014 | |||||||||
|
0.882 | 0.200 | 13 | 32355219 | stop gained | C/G;T | snv |
|
0.700 | 1.000 | 25 | 1997 | 2014 | |||||||||
|
1.000 | 0.080 | 17 | 43094138 | missense variant | A/C | snv |
|
0.700 | 1.000 | 25 | 1994 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 43093876 | missense variant | C/A;T | snv |
|
0.700 | 1.000 | 25 | 1994 | 2017 | |||||||||
|
0.925 | 0.080 | 17 | 43092856 | stop gained | A/C;G | snv |
|
0.700 | 1.000 | 25 | 1994 | 2017 | |||||||||
|
1.000 | 0.080 | 17 | 43092652 | missense variant | C/T | snv |
|
0.700 | 1.000 | 25 | 1994 | 2017 |