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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.280 | 1 | 11273836 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.280 | 1 | 11285644 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.240 | 1 | 179345018 | synonymous variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
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 |