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 | 11 | 2918030 | missense variant | C/T | snv | 7.0E-06 | 0.800 | 1.000 | 5 | 2013 | 2014 | ||||
|
1 | 1.000 | 0.080 | X | 3310056 | missense variant | T/G | snv | 9.6E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | X | 3311158 | missense variant | G/A;C | snv | 4.9E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | X | 3321214 | missense variant | G/A;C | snv | 1.6E-05 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | X | 3324243 | missense variant | G/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | X | 3311304 | missense variant | C/A;T | snv | 5.5E-06 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 9 | 85020233 | missense variant | C/T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 11 | 11352722 | missense variant | A/G | snv | 0.48 | 0.41 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 89472571 | missense variant | C/A;T | snv | 8.0E-06; 1.2E-05 | 0.700 | 0 | |||||||
|
2 | 0.776 | 0.240 | 7 | 140781611 | missense variant | C/A;G;T | snv | 4.0E-06 | 0.800 | 1.000 | 6 | 2002 | 2014 | ||||
|
1 | 0.763 | 0.240 | 17 | 39723966 | missense variant | TT/CC | mnv | 0.710 | 1.000 | 1 | 2004 | 2015 | |||||
|
1 | 0.763 | 0.400 | 7 | 140753345 | missense variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2002 | 2002 | |||||
|
1 | 0.672 | 0.400 | 12 | 25227341 | missense variant | T/A;G | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.583 | 0.640 | 12 | 25245351 | missense variant | C/A;G;T | snv | 0.880 | 1.000 | 0 | 2011 | 2019 |