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 | 37050534 | missense variant | C/T | snv | 5.6E-03 | 2.3E-02 | 0.700 | 1.000 | 20 | 1996 | 2012 | |||
|
1 | 1.000 | 0.080 | 3 | 37025919 | missense variant | G/A | snv | 3.4E-04 | 3.3E-04 | 0.700 | 1.000 | 20 | 1996 | 2012 | |||
|
2 | 0.925 | 0.160 | 3 | 37047607 | missense variant | T/A | snv | 1.9E-04 | 1.5E-04 | 0.700 | 1.000 | 20 | 1996 | 2012 | |||
|
1 | 1.000 | 0.080 | 3 | 37025977 | missense variant | A/C | snv | 1.6E-04 | 7.0E-05 | 0.700 | 1.000 | 20 | 1996 | 2012 | |||
|
2 | 0.925 | 0.120 | 3 | 37047520 | missense variant | A/G | snv | 1.2E-04 | 6.3E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 3 | 37020438 | missense variant | A/G | snv | 9.2E-05 | 5.6E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 37025751 | missense variant | C/T | snv | 6.0E-05 | 4.9E-05 | 0.700 | 1.000 | 15 | 2001 | 2017 | |||
|
1 | 1.000 | 0.080 | 3 | 37028848 | missense variant | G/A | snv | 1.6E-05 | 4.2E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 37050634 | missense variant | A/G | snv | 7.6E-05 | 3.5E-05 | 0.700 | 1.000 | 20 | 1996 | 2012 | |||
|
1 | 1.000 | 0.080 | 3 | 36996693 | missense variant | A/G | snv | 3.6E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 37028872 | inframe deletion | CAT/- | delins | 1.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.925 | 0.160 | 3 | 37028891 | missense variant | T/A;C | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2012 | ||||
|
4 | 0.925 | 0.160 | 3 | 37001045 | stop gained | C/T | snv | 7.0E-06 | 0.700 | 1.000 | 7 | 1999 | 2015 | ||||
|
1 | 1.000 | 0.080 | 3 | 37017560 | missense variant | C/G | snv | 7.0E-06 | 0.700 | 1.000 | 20 | 1996 | 2012 | ||||
|
1 | 1.000 | 0.080 | 3 | 37025925 | missense variant | A/C | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
9 | 0.807 | 0.200 | 3 | 36996701 | missense variant | G/A;C;T | snv | 0.800 | 1.000 | 40 | 1996 | 2017 | |||||
|
2 | 0.925 | 0.120 | 3 | 37025734 | missense variant | A/C;G;T | snv | 3.2E-05; 4.8E-05; 8.0E-06 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.160 | 3 | 37048557 | missense variant | A/C;G | snv | 4.4E-05 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
1 | 1.000 | 0.080 | 3 | 37025752 | missense variant | G/A;C;T | snv | 5.2E-05 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
2 | 0.925 | 0.120 | 3 | 37047640 | missense variant | A/C;G;T | snv | 3.5E-03; 8.4E-05 | 0.700 | 1.000 | 35 | 1996 | 2017 | ||||
|
4 | 0.882 | 0.160 | 3 | 36993632 | missense variant | G/T | snv | 0.700 | 1.000 | 35 | 1996 | 2017 | |||||
|
3 | 0.882 | 0.160 | 3 | 37047652 | missense variant | T/A;C | snv | 0.800 | 1.000 | 35 | 1996 | 2017 | |||||
|
3 | 0.925 | 0.160 | 3 | 37020411 | missense variant | A/C | snv | 0.800 | 1.000 | 35 | 1996 | 2017 | |||||
|
7 | 0.851 | 0.160 | 3 | 37017508 | missense variant | C/A;T | snv | 4.0E-06 | 0.800 | 1.000 | 31 | 2001 | 2017 | ||||
|
10 | 0.807 | 0.240 | 3 | 37048955 | missense variant | G/A;C | snv | 0.800 | 1.000 | 30 | 1996 | 2013 |