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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.851 | 0.240 | 3 | 122284482 | missense variant | C/A | snv | 0.800 | 1.000 | 20 | 1994 | 2015 | |||||
|
4 | 0.851 | 0.160 | 3 | 122257269 | missense variant | T/C | snv | 0.800 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 1.000 | 3 | 122257288 | missense variant | C/G | snv | 0.800 | 1.000 | 20 | 1994 | 2015 | ||||||
|
2 | 0.925 | 0.120 | 3 | 122257241 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122284371 | missense variant | T/A;C | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122257347 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122257249 | missense variant | C/A | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122257277 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122261606 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122283789 | missense variant | T/C | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122284272 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
3 | 0.925 | 0.120 | 3 | 122284317 | missense variant | T/G | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122254330 | missense variant | A/C | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122283800 | missense variant | C/G | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
5 | 0.851 | 0.200 | 3 | 122284413 | missense variant | C/T | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
3 | 0.882 | 0.160 | 3 | 122283764 | missense variant | G/A | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122284134 | missense variant | T/A | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
3 | 0.882 | 0.160 | 3 | 122257275 | missense variant | A/C;G | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
2 | 0.925 | 0.120 | 3 | 122283997 | missense variant | G/T | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
4 | 0.851 | 0.160 | 3 | 122261697 | missense variant | C/A;T | snv | 0.700 | 1.000 | 20 | 1994 | 2015 | |||||
|
3 | 0.882 | 0.120 | 3 | 122254274 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 3 | 122284318 | missense variant | C/G | snv | 0.700 | 0 |