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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 1.000 | 0.040 | 15 | 53705141 | missense variant | T/G | snv | 3.5E-03 | 1.5E-02 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
1 | 1.000 | 0.040 | 11 | 64600390 | missense variant | T/C;G | snv | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
5 | 0.827 | 0.240 | 11 | 64592802 | synonymous variant | T/C | snv | 0.57 | 0.51 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
9 | 0.763 | 0.160 | X | 43744144 | synonymous variant | T/C | snv | 0.62 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
11 | 0.763 | 0.280 | 11 | 18269774 | synonymous variant | T/C | snv | 0.42 | 0.36 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
1 | 1.000 | 0.040 | 7 | 73478187 | missense variant | T/C | snv | 3.3E-04 | 3.5E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
4 | 0.882 | 0.160 | 11 | 64589600 | upstream gene variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 11 | 64591133 | 5 prime UTR variant | T/C | snv | 0.45 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
41 | 0.623 | 0.600 | 2 | 136115750 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
1 | 1.000 | 0.040 | 11 | 64598471 | intron variant | T/A;C | snv | 6.5E-06; 0.57 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.120 | 12 | 121184717 | missense variant | T/A | snv | 1.5E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
26 | 0.790 | 0.320 | 11 | 119093274 | stop lost | GCCCATTAACTGGTTTGTGGGGCACAGATGCCTGGGTTGCTGCTGTCCAGTGCCT/- | delins | 0.700 | 0 | ||||||||
|
56 | 0.583 | 0.680 | 4 | 88131171 | missense variant | G/C;T | snv | 4.0E-06; 0.12 | 0.800 | 1.000 | 10 | 2010 | 2019 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | < 0.001 | 1 | 2012 | 2012 | ||||
|
4 | 0.882 | 0.160 | 8 | 10002570 | intron variant | G/C | snv | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 1.000 | 0.040 | 16 | 20341262 | missense variant | G/A;T | snv | 7.4E-04; 1.2E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.120 | 11 | 2847803 | missense variant | G/A;T | snv | 7.2E-05; 5.5E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
5 | 0.925 | 0.120 | 3 | 52907083 | missense variant | G/A;T | snv | 1.1E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
8 | 0.807 | 0.240 | 11 | 64593747 | stop gained | G/A;C | snv | 2.8E-04 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 0.925 | 0.200 | 11 | 64592788 | missense variant | G/A;C | snv | 4.8E-05; 9.6E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 1.000 | 0.040 | 3 | 66383098 | missense variant | G/A;C | snv | 1.4E-04; 4.0E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
1 | 1.000 | 0.040 | 15 | 98957359 | missense variant | G/A | snv | 1.1E-04 | 3.6E-04 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 1.000 | 0.040 | 5 | 73123606 | missense variant | G/A | snv | 6.8E-05; 8.0E-06 | 9.1E-05 | 0.700 | 1.000 | 1 | 2018 | 2018 | |||
|
262 | 0.435 | 0.880 | 6 | 26092913 | missense variant | G/A | snv | 3.3E-02 | 3.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
2 | 0.925 | 0.080 | 3 | 12408464 | intron variant | G/A | snv | 0.61 | 0.010 | 1.000 | 1 | 2013 | 2013 |