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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 1.000 | 0.080 | 14 | 23424817 | missense variant | C/A;G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23416211 | inframe deletion | CTC/- | delins | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 14 | 23429044 | missense variant | C/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 | |||||||
|
2 | 0.925 | 0.080 | 14 | 23424085 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 14 | 23417597 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23427846 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 14 | 23424044 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 14 | 23425760 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 19 | 1985 | 2017 | |||||
|
4 | 0.851 | 0.080 | 14 | 23429278 | missense variant | C/A;G;T | snv | 0.710 | 1.000 | 14 | 1990 | 2018 | |||||
|
9 | 0.763 | 0.160 | 14 | 23429279 | missense variant | G/A;C | snv | 0.700 | 1.000 | 8 | 1990 | 2013 | |||||
|
10 | 0.763 | 0.160 | 14 | 23431468 | missense variant | C/A;T | snv | 0.710 | 1.000 | 6 | 1991 | 2015 | |||||
|
4 | 0.851 | 0.080 | 14 | 23429005 | missense variant | G/A;C;T | snv | 0.700 | 1.000 | 19 | 1992 | 2014 | |||||
|
3 | 0.882 | 0.080 | 14 | 23427723 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 17 | 1992 | 2018 | ||||
|
3 | 0.882 | 0.080 | 14 | 23424107 | missense variant | G/C | snv | 1.4E-05 | 0.700 | 1.000 | 17 | 1992 | 2017 | ||||
|
8 | 0.851 | 0.080 | 14 | 23427657 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.700 | 1.000 | 15 | 1992 | 2014 | ||||
|
7 | 0.851 | 0.080 | 14 | 23425814 | missense variant | G/A;C | snv | 1.2E-05 | 0.710 | 1.000 | 13 | 1992 | 2018 | ||||
|
10 | 0.763 | 0.160 | 14 | 23424059 | missense variant | C/G;T | snv | 0.700 | 1.000 | 8 | 1992 | 2017 | |||||
|
4 | 0.851 | 0.120 | 14 | 23425980 | missense variant | C/T | snv | 0.700 | 1.000 | 13 | 1994 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425970 | missense variant | C/G;T | snv | 0.700 | 1.000 | 13 | 1994 | 2013 | |||||
|
3 | 0.882 | 0.080 | 14 | 23425971 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 10 | 1994 | 2017 | ||||
|
2 | 0.925 | 0.080 | 14 | 23424840 | missense variant | G/A | snv | 2.4E-05 | 7.0E-06 | 0.700 | 1.000 | 16 | 1995 | 2018 | |||
|
5 | 0.851 | 0.080 | 14 | 23424839 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.710 | 1.000 | 16 | 1995 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23427714 | missense variant | C/G;T | snv | 0.700 | 1.000 | 4 | 1995 | 2017 | |||||
|
3 | 0.882 | 0.080 | 14 | 23429004 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 2 | 1996 | 2011 |