| 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. | ||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.080 | 17 | 56594326 | missense variant | C/G;T | snv | 0.810 | 1.000 | 5 | 1999 | 2008 | |||||
|
2 | 0.925 | 0.080 | 17 | 56594888 | missense variant | A/G | snv | 0.800 | 1.000 | 4 | 1999 | 2005 | |||||
|
1 | 1.000 | 0.040 | 17 | 56594891 | missense variant | C/T | snv | 0.800 | 1.000 | 4 | 1999 | 2005 | |||||
|
1 | 1.000 | 0.040 | 17 | 56594788 | missense variant | G/T | snv | 0.800 | 1.000 | 4 | 1999 | 2005 | |||||
|
2 | 0.925 | 0.080 | 17 | 56594327 | missense variant | C/G;T | snv | 0.800 | 1.000 | 4 | 1999 | 2005 | |||||
|
3 | 0.882 | 0.080 | 17 | 56594774 | missense variant | G/A | snv | 0.800 | 1.000 | 4 | 1999 | 2005 | |||||
|
1 | 1.000 | 0.040 | 17 | 56594887 | missense variant | T/C;G | snv | 0.800 | 1.000 | 4 | 1999 | 2005 | |||||
|
2 | 0.925 | 0.080 | 17 | 56594838 | missense variant | G/C | snv | 0.700 | 1.000 | 4 | 1999 | 2005 | |||||
|
3 | 0.882 | 0.040 | 17 | 56594609 | stop gained | T/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 17 | 56594822 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.040 | 20 | 35434297 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
3 | 0.882 | 0.080 | 20 | 35434102 | missense variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2006 | 2006 |