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 | 0.160 | 5 | 132384290 | missense variant | C/T | snv | 7.2E-04 | 1.8E-04 | 0.800 | 0 | ||||||
|
3 | 1.000 | 0.160 | 5 | 132385435 | stop gained | C/A;T | snv | 5.3E-04; 1.2E-04 | 0.730 | 1.000 | 10 | 2002 | 2015 | ||||
|
1 | 1.000 | 0.160 | 5 | 132393745 | missense variant | T/C | snv | 7.0E-06 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370006 | missense variant | G/A | snv | 7.1E-04 | 6.5E-04 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132392529 | missense variant | C/G | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132384178 | missense variant | A/G | snv | 7.6E-05 | 2.7E-04 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132385375 | missense variant | G/C | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132389012 | missense variant | T/A;C | snv | 4.0E-06; 5.2E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132385436 | missense variant | G/A | snv | 9.9E-05 | 7.0E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132385466 | missense variant | C/G;T | snv | 3.2E-05; 3.2E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132387049 | missense variant | G/T | snv | 0.700 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132390725 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132392507 | missense variant | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132390709 | missense variant | T/A | snv | 4.0E-06 | 1.4E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370028 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 1.000 | 18 | 1999 | 2017 | ||||
|
1 | 1.000 | 0.160 | 5 | 132370055 | missense variant | G/T | snv | 0.700 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132385400 | missense variant | G/T | snv | 0.700 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132387047 | missense variant | T/A;C | snv | 0.700 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132387102 | missense variant | C/A;G | snv | 0.700 | 1.000 | 18 | 1999 | 2017 | |||||
|
1 | 1.000 | 0.160 | 5 | 132392501 | missense variant | G/T | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132385363 | missense variant | T/C | snv | 8.0E-06 | 1.4E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132370196 | missense variant | G/C | snv | 9.9E-06 | 1.4E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132384172 | missense variant | G/A | snv | 4.4E-05 | 2.8E-05 | 0.700 | 1.000 | 18 | 1999 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132385370 | missense variant | C/T | snv | 9.1E-05 | 1.8E-04 | 0.700 | 1.000 | 8 | 2005 | 2017 | |||
|
1 | 1.000 | 0.160 | 5 | 132387044 | stop gained | C/T | snv | 4.0E-05 | 4.9E-05 | 0.700 | 1.000 | 8 | 1999 | 2017 |