Source: CURATED ×
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 | 0.827 | 0.240 | 15 | 89320883 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 2002 | 2008 | |||||
|
1 | 1.000 | 0.160 | 15 | 89320878 | missense variant | C/A;G | snv | 4.0E-06 | 0.800 | 1.000 | 7 | 2002 | 2008 | ||||
|
1 | 0.925 | 0.200 | 15 | 89326965 | missense variant | C/T | snv | 0.800 | 1.000 | 7 | 2002 | 2008 | |||||
|
2 | 0.882 | 0.200 | 15 | 89321842 | missense variant | T/C | snv | 6.6E-03 | 7.0E-03 | 0.700 | 1.000 | 7 | 2002 | 2008 | |||
|
1 | 1.000 | 0.160 | 15 | 89317492 | stop gained | G/A;T | snv | 8.0E-06 | 0.700 | 1.000 | 7 | 2002 | 2008 | ||||
|
10 | 0.742 | 0.320 | 15 | 89321792 | missense variant | C/T | snv | 1.5E-04 | 2.7E-04 | 0.700 | 1.000 | 3 | 2002 | 2011 | |||
|
7 | 0.807 | 0.280 | 15 | 89326678 | frameshift variant | A/- | delins | 0.700 | 1.000 | 3 | 2010 | 2017 | |||||
|
21 | 0.701 | 0.360 | 15 | 89327201 | missense variant | C/T | snv | 5.1E-04 | 6.7E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.200 | 15 | 89320890 | missense variant | G/A | snv | 2.4E-05 | 1.1E-04 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.240 | 15 | 89329055 | missense variant | A/C | snv | 5.7E-05 | 3.5E-05 | 0.700 | 0 | ||||||
|
7 | 0.807 | 0.240 | 15 | 89323460 | missense variant | C/G;T | snv | 6.9E-04; 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.807 | 0.240 | 15 | 89321780 | missense variant | G/A | snv | 4.8E-05 | 6.3E-05 | 0.700 | 0 | ||||||
|
6 | 0.807 | 0.240 | 15 | 89318737 | missense variant | G/A;C | snv | 8.0E-06 | 0.700 | 0 |