Source: ALL
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 | 19 | 34377575 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.800 | 1.000 | 7 | 1993 | 2018 | ||||
|
5 | 0.827 | 0.080 | 19 | 34394044 | missense variant | G/A;T | snv | 1.2E-05; 4.0E-06 | 0.800 | 1.000 | 7 | 1993 | 2018 | ||||
|
1 | 1.000 | 19 | 34399933 | missense variant | T/C;G | snv | 2.8E-05; 4.0E-06 | 0.800 | 1.000 | 7 | 1993 | 2018 | |||||
|
1 | 1.000 | 19 | 34399974 | missense variant | G/A | snv | 0.800 | 1.000 | 7 | 1993 | 2018 | ||||||
|
1 | 1.000 | 19 | 34394032 | missense variant | A/G | snv | 1.6E-05 | 0.800 | 1.000 | 7 | 1993 | 2018 | |||||
|
1 | 1.000 | 19 | 34365280 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 7 | 1993 | 2018 | |||||
|
1 | 1.000 | 19 | 34396362 | missense variant | C/G | snv | 0.800 | 1.000 | 7 | 1993 | 2018 | ||||||
|
1 | 1.000 | 19 | 34378971 | missense variant | C/T | snv | 2.0E-05 | 4.9E-05 | 0.800 | 1.000 | 7 | 1993 | 2018 | ||||
|
2 | 0.925 | 19 | 34365325 | missense variant | A/C | snv | 1.3E-05 | 0.700 | 1.000 | 7 | 1993 | 2018 | |||||
|
2 | 0.925 | 19 | 34394020 | missense variant | T/C | snv | 0.700 | 1.000 | 7 | 1993 | 2018 | ||||||
|
1 | 1.000 | 19 | 34396404 | missense variant | A/G | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1993 | 2018 | |||||
|
1 | 1.000 | 19 | 34377832 | missense variant | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1993 | 2018 | |||||
|
1 | 1.000 | 19 | 34393760 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 1.000 | 7 | 1993 | 2018 | |||||
|
1 | 1.000 | 19 | 34399572 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1993 | 2018 | |||||
|
1 | 1.000 | 19 | 34393276 | missense variant | C/T | snv | 4.4E-05 | 7.0E-05 | 0.700 | 1.000 | 7 | 1993 | 2018 | ||||
|
1 | 1.000 | 19 | 34368601 | missense variant | G/A | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 7 | 1993 | 2018 | ||||
|
1 | 1.000 | 19 | 34366792 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
1 | 1.000 | 19 | 34393261 | missense variant | G/A | snv | 0.700 | 0 | |||||||||
|
2 | 0.925 | 0.080 | 19 | 34399571 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 19 | 34399616 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 34394043 | missense variant | C/T | snv | 2.0E-05 | 4.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 34399273 | stop gained | C/G;T | snv | 4.0E-06 | 3.5E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 34399727 | missense variant | G/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 19 | 34366816 | missense variant | C/G;T | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 |