Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 40 | 1996 | 2017 | |||||
|
4 | 0.882 | 0.160 | 3 | 36993632 | missense variant | G/T | snv | 0.700 | 1.000 | 35 | 1996 | 2017 | |||||
|
3 | 0.882 | 0.160 | 3 | 37047652 | missense variant | T/A;C | snv | 0.800 | 1.000 | 35 | 1996 | 2017 | |||||
|
3 | 0.925 | 0.160 | 3 | 37020411 | missense variant | A/C | snv | 0.800 | 1.000 | 35 | 1996 | 2017 | |||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.800 | 1.000 | 30 | 1996 | 2013 | |||||
|
6 | 0.851 | 0.240 | 3 | 37048563 | missense variant | C/G;T | snv | 0.800 | 1.000 | 29 | 1996 | 2014 | |||||
|
3 | 0.925 | 0.160 | 3 | 37001049 | splice donor variant | G/A;T | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 37048587 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 37048910 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
4 | 0.882 | 0.160 | 3 | 37048604 | missense variant | A/C;T | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 37004420 | missense variant | A/C;G | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 37004425 | missense variant | G/C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
4 | 0.851 | 0.200 | 3 | 37008905 | missense variant | G/A;C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
2 | 0.925 | 0.160 | 3 | 36993651 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
4 | 0.925 | 0.160 | 3 | 37028891 | missense variant | T/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2012 | ||||
|
2 | 0.925 | 0.160 | 3 | 37000985 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 36993638 | missense variant | GC/TG | mnv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
2 | 0.925 | 0.160 | 3 | 37047553 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
2 | 0.925 | 0.160 | 3 | 37042276 | missense variant | T/A;C;G | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
3 | 0.925 | 0.160 | 3 | 37017599 | missense variant | G/A;C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
6 | 0.851 | 0.160 | 3 | 37040276 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
5 | 0.882 | 0.160 | 3 | 37008904 | missense variant | A/G | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 37047679 | missense variant | A/C;G | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
2 | 0.925 | 0.160 | 3 | 36996705 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1996 | 2012 | |||||
|
1 | 1.000 | 0.080 | 3 | 37040273 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1996 | 2012 |