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 | 4 | 105234376 | missense variant | G/A | snv | 5.2E-04 | 2.2E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 4 | 105276128 | missense variant | T/C;G | snv | 1.3E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 105276331 | missense variant | C/T | snv | 6.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 105276287 | missense variant | G/A | snv | 6.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 105276431 | missense variant | G/T | snv | 0.700 | 0 | ||||||||
|
15 | 0.776 | 0.240 | 2 | 25234373 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06; 2.2E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 7 | 148809351 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 4 | 105235321 | missense variant | C/T | snv | 1.2E-04 | 1.7E-04 | 0.700 | 0 | ||||||
|
7 | 0.827 | 0.240 | 2 | 25234374 | missense variant | G/A;C;T | snv | 1.2E-04; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 105236763 | missense variant | C/T | snv | 1.2E-05 | 2.1E-05 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.080 | 4 | 105234864 | missense variant | G/A;C | snv | 4.0E-06; 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 105272630 | missense variant | G/A;T | snv | 3.8E-05; 6.4E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 105276407 | missense variant | G/A | snv | 5.7E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 2 | 25240717 | missense variant | C/G;T | snv | 1.2E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 105243757 | missense variant | G/A;C | snv | 6.4E-06 | 0.700 | 0 | |||||||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.080 | 1.000 | 8 | 2005 | 2019 | ||||
|
50 | 0.611 | 0.560 | 1 | 114716126 | missense variant | C/A;G;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
49 | 0.614 | 0.400 | 4 | 54733155 | missense variant | A/T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
52 | 0.605 | 0.400 | 4 | 54733167 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.882 | 0.160 | 21 | 6486334 | missense variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
8 | 0.827 | 0.160 | 21 | 43094667 | missense variant | T/C;G | snv | 2.4E-05; 2.4E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
24 | 0.683 | 0.400 | 21 | 43104346 | missense variant | G/A;T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
14 | 0.732 | 0.280 | 2 | 197402110 | stop gained | T/A;C;G | snv | 9.0E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 1.000 | 0.080 | 11 | 108259059 | missense variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
72 | 0.583 | 0.840 | 16 | 3243407 | missense variant | T/A;C | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 |