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 | 0.120 | 4 | 41745985 | inframe insertion | CGCCGCCGCTGCCGC/-;CGCCGCCGCTGCCGCCGCCGCCGCTGCCGC | delins | 1.5E-05 | 0.700 | 1.000 | 6 | 2003 | 2015 | ||||
|
4 | 0.851 | 0.200 | 10 | 43102345 | missense variant | G/A | snv | 7.9E-04 | 2.9E-04 | 0.700 | 1.000 | 4 | 1998 | 2010 | |||
|
1 | 1.000 | 0.120 | 10 | 43111238 | missense variant | C/A;T | snv | 8.0E-06; 1.6E-05 | 0.700 | 1.000 | 3 | 1998 | 2003 | ||||
|
1 | 1.000 | 0.120 | 10 | 43126651 | missense variant | C/A;T | snv | 3.6E-05 | 0.700 | 1.000 | 3 | 1998 | 2003 | ||||
|
6 | 0.807 | 0.280 | 5 | 37816010 | missense variant | G/A | snv | 2.3E-03 | 2.7E-03 | 0.700 | 1.000 | 2 | 1998 | 2010 | |||
|
1 | 1.000 | 0.120 | 11 | 27658560 | missense variant | G/A;T | snv | 1.3E-03; 1.6E-04 | 0.700 | 1.000 | 2 | 2002 | 2010 | ||||
|
1 | 1.000 | 0.120 | 4 | 41746003 | inframe insertion | CGCGGCCGCCGCCGCTGCTGC/-;CGCGGCCGCCGCCGCTGCTGCCGCGGCCGCCGCCGCTGCTGC | delins | 1.2E-04 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.120 | 10 | 43100585 | missense variant | G/A;T | snv | 1.1E-03; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.120 | 12 | 102958296 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
7 | 0.790 | 0.240 | 10 | 43114547 | synonymous variant | G/A | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.120 | 4 | 41746133 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
17 | 0.724 | 0.280 | 10 | 43113648 | missense variant | T/A;C;G | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
29 | 0.662 | 0.360 | 10 | 43119548 | missense variant | G/A;C;T | snv | 1.2E-04; 4.3E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.160 | 4 | 41747479 | missense variant | C/A | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 4 | 41745990 | synonymous variant | T/C;G | snv | 2.8E-04; 4.7E-05; 4.7E-05; 5.7E-03; 9.3E-05 | 3.4E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |