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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
11 | 0.763 | 0.320 | 1 | 156136984 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.100 | 1.000 | 14 | 2001 | 2018 | |||
|
29 | 0.653 | 0.480 | 1 | 156136985 | missense variant | G/A;T | snv | 0.100 | 1.000 | 10 | 2000 | 2020 | |||||
|
2 | 0.925 | 0.080 | 1 | 156138534 | missense variant | G/A;T | snv | 8.2E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2000 | |||
|
4 | 0.851 | 0.160 | 3 | 12433900 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2002 | 2007 | |||||
|
3 | 0.925 | 0.120 | 1 | 156137730 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 0.925 | 0.120 | 3 | 12381463 | missense variant | A/G | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.200 | 1 | 156136121 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
1 | 1.000 | 0.080 | 1 | 156115057 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.851 | 0.160 | 1 | 156136951 | missense variant | C/G;T | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
4 | 0.851 | 0.240 | 1 | 156136419 | missense variant | C/T | snv | 9.9E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
5 | 0.827 | 0.120 | 1 | 156138540 | missense variant | G/A | snv | 1.6E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
2 | 0.925 | 0.200 | 1 | 156136981 | missense variant | T/C | snv | 0.010 | 1.000 | 1 | 2001 | 2001 | |||||
|
8 | 0.776 | 0.200 | 1 | 156136413 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
2 | 0.925 | 0.080 | 1 | 156136934 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2003 | 2003 | |||||
|
3 | 0.882 | 0.080 | 3 | 12417048 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
3 | 0.882 | 0.120 | 17 | 17816960 | missense variant | G/A | snv | 2.0E-05 | 2.8E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 |