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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
1 | 4 | 55509814 | intron variant | A/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
2 | 1.000 | 0.040 | 2 | 48721568 | 3 prime UTR variant | A/C | snv | 0.29 | 0.010 | < 0.001 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 8 | 30846888 | stop gained | A/C | snv | 0.700 | 0 | |||||||||
|
2 | 1.000 | 0.160 | 1 | 155186160 | missense variant | A/C;G | snv | 1.5E-05 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.100 | 0.926 | 27 | 2003 | 2019 | |||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.060 | 0.667 | 6 | 2014 | 2019 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.060 | 0.833 | 6 | 2006 | 2017 | |||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 0.500 | 2 | 2017 | 2018 | |||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
28 | 0.695 | 0.280 | 4 | 55435202 | 3 prime UTR variant | A/G | snv | 0.25 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | 11 | 36575763 | missense variant | A/G | snv | 0.19 | 0.13 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 7 | 17305990 | intron variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
2 | 6 | 49695854 | missense variant | A/G | snv | 1.7E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
131 | 0.500 | 0.840 | 6 | 159692840 | missense variant | A/G | snv | 0.48 | 0.47 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 1.000 | 0.040 | X | 133027727 | missense variant | A/G | snv | 2.6E-02 | 3.4E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 17 | 7294314 | missense variant | A/G | snv | 0.46 | 0.48 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
62 | 0.583 | 0.680 | 6 | 151842246 | intron variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
19 | 0.716 | 0.200 | 12 | 68808384 | 5 prime UTR variant | A/G | snv | 0.37 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 11 | 108259068 | missense variant | A/G | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
214 | 0.456 | 0.840 | 7 | 87509329 | synonymous variant | A/G;T | snv | 0.50 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
3 | 1.000 | 0.160 | X | 67717574 | missense variant | A/G;T | snv | 2.2E-05; 5.5E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
11 | 0.790 | 0.320 | 2 | 25343038 | upstream gene variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
36 | 0.630 | 0.640 | 15 | 74719300 | downstream gene variant | A/G;T | snv | 0.18 | 0.010 | 1.000 | 1 | 2019 | 2019 |