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 | 23417616 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
2 | 0.925 | 0.080 | 14 | 23417598 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
3 | 0.882 | 0.080 | 14 | 23418244 | missense variant | C/A;T | snv | 7.0E-06 | 0.800 | 1.000 | 28 | 1992 | 2017 | ||||
|
1 | 1.000 | 0.080 | 14 | 23418398 | missense variant | G/A;T | snv | 2.8E-05; 1.1E-04 | 0.700 | 1.000 | 27 | 1992 | 2017 | ||||
|
3 | 0.882 | 0.080 | 14 | 23418249 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 23 | 1992 | 2014 | |||
|
4 | 0.882 | 0.080 | 14 | 23418313 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 9 | 2004 | 2013 | ||||
|
1 | 1.000 | 0.080 | 14 | 23418348 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.080 | 14 | 23419950 | missense variant | G/A;C;T | snv | 5.6E-05; 3.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 23418235 | missense variant | G/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 23419926 | missense variant | C/G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 23415228 | missense variant | T/C | snv | 3.2E-05 | 6.3E-05 | 0.700 | 1.000 | 27 | 1992 | 2017 | |||
|
2 | 0.925 | 0.080 | 14 | 23414101 | missense variant | G/A | snv | 2.4E-05 | 2.1E-05 | 0.700 | 1.000 | 23 | 1992 | 2014 | |||
|
2 | 0.925 | 0.080 | 14 | 23415652 | missense variant | G/A | snv | 7.0E-06 | 0.800 | 1.000 | 20 | 1992 | 2005 | ||||
|
3 | 0.882 | 0.080 | 14 | 23414015 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23415225 | missense variant | C/T | snv | 6.8E-05 | 9.1E-05 | 0.700 | 1.000 | 20 | 1992 | 2005 | |||
|
2 | 0.925 | 0.080 | 14 | 23417295 | missense variant | C/A;G;T | snv | 3.0E-04; 4.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23416975 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23415252 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1992 | 2005 | |||||
|
1 | 1.000 | 0.080 | 14 | 23415407 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 20 | 1992 | 2005 | ||||
|
1 | 1.000 | 0.080 | 14 | 23413763 | missense variant | G/A | snv | 2.4E-05 | 9.8E-05 | 0.700 | 1.000 | 3 | 2003 | 2014 | |||
|
3 | 0.882 | 0.160 | 14 | 23415176 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.080 | 14 | 23415651 | missense variant | C/G;T | snv | 4.0E-06; 2.0E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 14 | 23415132 | missense variant | C/T | snv | 3.6E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 23416140 | missense variant | C/T | snv | 4.0E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 14 | 23415410 | missense variant | C/T | snv | 0.700 | 0 |