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 | 3 | 120633233 | missense variant | T/C | snv | 1.7E-04 | 3.0E-04 | 0.810 | 1.000 | 15 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 120641660 | missense variant | C/A;T | snv | 5.6E-05 | 0.810 | 1.000 | 15 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120633223 | missense variant | T/C | snv | 3.6E-05; 4.0E-06 | 1.2E-04 | 0.810 | 1.000 | 13 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 120647041 | missense variant | C/T | snv | 8.8E-05 | 1.6E-04 | 0.800 | 1.000 | 18 | 1996 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 120638562 | missense variant | A/C;G | snv | 0.800 | 1.000 | 15 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 120650843 | missense variant | G/A | snv | 5.6E-05 | 0.800 | 1.000 | 15 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120644419 | missense variant | C/G;T | snv | 4.0E-06; 8.0E-06 | 0.800 | 1.000 | 15 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120674919 | missense variant | C/T | snv | 4.0E-05 | 5.6E-05 | 0.800 | 1.000 | 14 | 1996 | 2016 | |||
|
1 | 1.000 | 0.080 | 3 | 120644405 | missense variant | G/A | snv | 4.0E-05 | 2.8E-05 | 0.800 | 1.000 | 14 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 120628517 | missense variant | C/G | snv | 4.0E-06 | 0.800 | 1.000 | 14 | 1996 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 120638471 | missense variant | C/A;G;T | snv | 2.4E-05 | 0.800 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120641595 | missense variant | G/A;T | snv | 4.0E-06; 8.0E-06 | 0.710 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120646327 | missense variant | T/C | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 13 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 120647891 | missense variant | C/G | snv | 0.700 | 1.000 | 13 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 120633257 | missense variant | C/G | snv | 1.2E-05 | 1.4E-05 | 0.700 | 1.000 | 13 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 120674952 | missense variant | T/G | snv | 4.4E-05 | 7.0E-05 | 0.700 | 1.000 | 13 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 120650840 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120650861 | missense variant | A/G | snv | 4.4E-05 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120650849 | missense variant | C/A;T | snv | 3.6E-05; 4.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120641662 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120644320 | missense variant | T/G | snv | 0.700 | 1.000 | 13 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 120633259 | missense variant | G/A | snv | 1.2E-05 | 7.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 | |||
|
1 | 1.000 | 0.080 | 3 | 120633229 | missense variant | G/T | snv | 4.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 120647888 | missense variant | T/C | snv | 0.700 | 1.000 | 13 | 1996 | 2015 | |||||
|
1 | 1.000 | 0.080 | 3 | 120647018 | missense variant | C/G | snv | 8.0E-06 | 7.0E-06 | 0.700 | 1.000 | 13 | 1996 | 2015 |