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 | 0.120 | 17 | 50194756 | missense variant | C/G;T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50190334 | missense variant | C/A;G | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50186894 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50190062 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
5 | 0.827 | 0.160 | 17 | 50194032 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50188776 | missense variant | C/A;G;T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50196651 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195267 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50195258 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50195099 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50194365 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50194005 | missense variant | C/G | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50193969 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50193011 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50192492 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50191462 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50191436 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50191417 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50191408 | missense variant | C/G;T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50191391 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50191390 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
2 | 0.925 | 0.120 | 17 | 50190869 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50190834 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
1 | 1.000 | 0.120 | 17 | 50190353 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 | |||||
|
3 | 0.882 | 0.120 | 17 | 50190045 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1986 | 2015 |