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 | 48467394 | missense variant | G/C | snv | 1.2E-04 | 4.6E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 3 | 48467334 | missense variant | G/A | snv | 1.3E-04 | 5.0E-04 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 11556804 | missense variant | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 11555425 | missense variant | G/A | snv | 3.1E-03 | 3.0E-03 | 0.700 | 0 | ||||||
|
1 | 1.000 | 0.080 | 8 | 11561347 | missense variant | C/T | snv | 8.6E-04 | 6.4E-04 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.120 | 12 | 49038730 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 8 | 11550181 | missense variant | C/A;G;T | snv | 2.0E-03; 5.2E-04 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 8 | 11561320 | missense variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
25 | 0.776 | 0.360 | 9 | 127825225 | splice region variant | A/G | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.827 | 0.320 | 3 | 48466995 | missense variant | C/T | snv | 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 3 | 48467572 | missense variant | G/A;C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
6 | 0.925 | 0.120 | 17 | 66212167 | missense variant | C/G | snv | 4.8E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 1999 | 1999 | |||
|
1 | 1.000 | 0.080 | 19 | 35336077 | missense variant | C/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 1999 | 1999 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 6 | 32584172 | missense variant | C/A;G;T | snv | 6.1E-04; 7.6E-03 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 6 | 32584171 | missense variant | G/A;C;T | snv | 9.0E-04; 0.12 | 0.010 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 12193005 | missense variant | G/A | snv | 2.7E-02 | 2.5E-02 | 0.010 | < 0.001 | 1 | 2000 | 2000 | |||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2000 | 2002 | |||
|
1 | 1.000 | 0.080 | 1 | 182822176 | missense variant | T/G | snv | 0.010 | 1.000 | 1 | 2002 | 2002 | |||||
|
11 | 0.742 | 0.400 | 1 | 161626196 | missense variant | C/A;G;T | snv | 1.5E-03; 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
2 | 0.925 | 0.080 | 16 | 28933379 | synonymous variant | G/A;T | snv | 3.2E-05; 0.30 | 0.010 | 1.000 | 1 | 2002 | 2002 | ||||
|
3 | 0.882 | 0.160 | 12 | 6333790 | missense variant | G/A;T | snv | 1.0E-04 | 0.020 | 1.000 | 2 | 2004 | 2004 | ||||
|
1 | 1.000 | 0.080 | 12 | 6333441 | missense variant | C/T | snv | 4.0E-05 | 7.0E-06 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
31 | 0.645 | 0.520 | 4 | 153704936 | missense variant | C/T | snv | 8.8E-05 | 9.8E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
20 | 0.695 | 0.440 | 16 | 27342243 | missense variant | G/A;T | snv | 3.6E-05; 2.9E-04 | 0.010 | 1.000 | 1 | 2004 | 2004 |