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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 14 | 23420222 | stop gained | C/A | snv | 8.2E-06 | 7.0E-06 | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 14 | 23429038 | missense variant | G/A | snv | 2.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
10 | 0.763 | 0.160 | 14 | 23431468 | missense variant | C/A;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 14 | 23429850 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
3 | 1.000 | 0.080 | 14 | 23425357 | missense variant | C/A;G;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.080 | 14 | 23424118 | missense variant | C/G;T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 14 | 23431789 | missense variant | C/A;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 14 | 23431426 | missense variant | A/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
2 | 14 | 23431608 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 0 | ||||||||
|
4 | 1.000 | 0.080 | 14 | 23417174 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.080 | 14 | 23418313 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
1 | 14 | 23425373 | missense variant | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 14 | 23422268 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 14 | 23413792 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 14 | 23415095 | missense variant | C/T | snv | 2.0E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 14 | 23419588 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.080 | 14 | 23431781 | missense variant | T/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
1 | 14 | 23423966 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2017 | 2017 |