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 | |||||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.020 | < 0.001 | 2 | 2014 | 2018 | |||
|
1 | 1.000 | 0.080 | 2 | 64093612 | 3 prime UTR variant | G/A | snv | 0.11 | 0.010 | < 0.001 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.200 | 12 | 8138610 | intron variant | C/T | snv | 0.28 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | 12 | 66211448 | missense variant | A/C;G | snv | 4.0E-06; 0.87 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
55 | 0.597 | 0.680 | 14 | 61740839 | missense variant | C/T | snv | 8.8E-02 | 7.7E-02 | 0.010 | < 0.001 | 1 | 2014 | 2014 | |||
|
4 | 0.882 | 0.240 | 7 | 95425028 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
4 | 0.851 | 0.160 | 1 | 22637618 | start lost | T/G | snv | 7.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.010 | < 0.001 | 1 | 2007 | 2007 | |||
|
1 | 1.000 | 0.080 | X | 154065469 | intron variant | A/T | snv | 0.22 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
1 | 1.000 | 0.080 | X | 154075609 | intron variant | C/A | snv | 0.21 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
4 | 0.851 | 0.200 | X | 154046529 | intron variant | T/A;C | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
25 | 0.695 | 0.400 | 11 | 46739505 | 3 prime UTR variant | G/A | snv | 9.6E-03 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | < 0.001 | 1 | 2017 | 2017 |