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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 0.925 | 0.240 | 13 | 102868152 | missense variant | T/C | snv | 0.800 | 1.000 | 7 | 1994 | 2013 | |||||
|
1 | 1.000 | 0.160 | 13 | 102873283 | missense variant | G/C | snv | 0.800 | 1.000 | 7 | 1994 | 2013 | |||||
|
1 | 1.000 | 0.160 | 13 | 102846349 | missense variant | C/A | snv | 0.800 | 1.000 | 7 | 1994 | 2013 | |||||
|
1 | 1.000 | 0.160 | 13 | 102868199 | missense variant | G/A | snv | 2.4E-05 | 3.5E-05 | 0.710 | 1.000 | 7 | 1994 | 2013 | |||
|
1 | 1.000 | 0.160 | 13 | 102866687 | missense variant | C/A;T | snv | 4.0E-06; 2.4E-05 | 0.700 | 1.000 | 7 | 1994 | 2013 | ||||
|
2 | 0.925 | 0.240 | 13 | 102852244 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 7 | 1994 | 2013 | ||||
|
1 | 1.000 | 0.160 | 13 | 102875580 | stop gained | G/C;T | snv | 1.00; 1.3E-04 | 0.700 | 1.000 | 1 | 2004 | 2004 | ||||
|
2 | 0.925 | 0.160 | 13 | 102872397 | stop gained | G/A;T | snv | 8.0E-06; 8.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 102854313 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 102866665 | stop gained | C/G;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.160 | 13 | 102872262 | frameshift variant | A/-;AA | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 102862263 | frameshift variant | GGAA/- | delins | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.160 | 13 | 102862640 | frameshift variant | A/- | delins | 0.700 | 0 | ||||||||
|
20 | 0.701 | 0.280 | 13 | 102844409 | intron variant | C/T | snv | 0.18 | 0.050 | 0.800 | 5 | 2016 | 2018 | ||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.040 | 1.000 | 4 | 2014 | 2019 | |||
|
21 | 0.695 | 0.280 | 13 | 102846025 | 5 prime UTR variant | T/C | snv | 0.38 | 0.040 | 1.000 | 4 | 2016 | 2017 | ||||
|
15 | 0.724 | 0.360 | 13 | 102845848 | 5 prime UTR variant | A/G | snv | 0.76 | 0.040 | 0.750 | 4 | 2016 | 2018 | ||||
|
25 | 0.677 | 0.360 | 13 | 102875987 | 3 prime UTR variant | G/A | snv | 0.59 | 0.020 | 1.000 | 2 | 2016 | 2017 | ||||
|
20 | 0.695 | 0.320 | 13 | 102852167 | synonymous variant | T/C | snv | 0.52 | 0.59 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.160 | 10 | 49517092 | missense variant | T/A;C | snv | 8.0E-06; 6.8E-05 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
151 | 0.474 | 0.800 | 19 | 43553422 | missense variant | G/A | snv | 9.5E-02 | 7.0E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
9 | 0.790 | 0.240 | 13 | 102862735 | missense variant | G/A;C | snv | 4.3E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
60 | 0.570 | 0.480 | 3 | 14145949 | missense variant | G/T | snv | 0.63 | 0.65 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
8 | 0.807 | 0.240 | 5 | 87399457 | missense variant | A/G;T | snv | 0.18 | 0.17 | 0.010 | 1.000 | 1 | 2007 | 2007 |