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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.080 | 14 | 23428631 | missense variant | C/T | snv | 4.0E-06 | 7.0E-06 | 0.800 | 1.000 | 25 | 1992 | 2017 | |||
|
1 | 1.000 | 0.080 | 14 | 23428546 | missense variant | A/G | snv | 0.800 | 1.000 | 25 | 1992 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23424893 | missense variant | A/C;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 25 | 1992 | 2017 | ||||
|
9 | 0.763 | 0.160 | 14 | 23424041 | missense variant | C/G;T | snv | 0.800 | 1.000 | 25 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425780 | missense variant | T/G | snv | 0.800 | 1.000 | 25 | 1992 | 2017 | |||||
|
1 | 1.000 | 0.080 | 14 | 23425346 | missense variant | G/A | snv | 5.6E-05 | 8.4E-05 | 0.700 | 1.000 | 23 | 1992 | 2014 | |||
|
3 | 0.882 | 0.080 | 14 | 23429044 | missense variant | C/T | snv | 0.700 | 1.000 | 23 | 1992 | 2014 | |||||
|
4 | 0.851 | 0.120 | 14 | 23425980 | missense variant | C/T | snv | 0.800 | 1.000 | 22 | 1992 | 2005 | |||||
|
3 | 0.882 | 0.080 | 14 | 23429004 | missense variant | C/A;G;T | snv | 0.800 | 1.000 | 21 | 1992 | 2005 | |||||
|
3 | 0.882 | 0.080 | 14 | 23426033 | missense variant | A/G | snv | 0.800 | 1.000 | 21 | 1992 | 2005 | |||||
|
3 | 0.882 | 0.080 | 14 | 23431447 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23429867 | missense variant | A/G | snv | 2.1E-05 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23425798 | missense variant | G/A | snv | 1.6E-04 | 9.1E-05 | 0.700 | 1.000 | 20 | 1992 | 2005 | |||
|
3 | 0.882 | 0.080 | 14 | 23425371 | missense variant | G/A;C;T | snv | 2.9E-04 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
3 | 0.882 | 0.080 | 14 | 23428587 | missense variant | C/A | snv | 8.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23428583 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
4 | 0.882 | 0.080 | 14 | 23429850 | missense variant | C/G;T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
2 | 0.925 | 0.080 | 14 | 23429266 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
2 | 0.925 | 0.080 | 14 | 23429089 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
9 | 0.763 | 0.160 | 14 | 23426834 | missense variant | G/A;C | snv | 0.800 | 1.000 | 20 | 1992 | 2005 | |||||
|
2 | 0.925 | 0.080 | 14 | 23425752 | missense variant | C/G;T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
2 | 0.925 | 0.080 | 14 | 23424804 | stop gained | G/A;C | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23424050 | stop gained | C/A;T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23422256 | missense variant | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 | |||
|
2 | 0.925 | 0.080 | 14 | 23433086 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 |