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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
10 | 0.807 | 0.160 | 9 | 124500686 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.040 | 1.000 | 4 | 2007 | 2015 | |||
|
1 | 1.000 | 0.040 | 1 | 179342120 | missense variant | T/C | snv | 1.2E-05 | 7.0E-06 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
6 | 0.827 | 0.160 | 2 | 176094518 | stop gained | C/T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
2 | 0.925 | 0.040 | 7 | 5977755 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
6 | 0.827 | 0.120 | 1 | 11790377 | 3 prime UTR variant | C/T | snv | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.040 | 19 | 374362 | missense variant | C/T | snv | 8.0E-05 | 4.9E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 0.925 | 0.040 | 20 | 45208496 | missense variant | G/A | snv | 1.0E-04 | 1.3E-04 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
6 | 0.807 | 0.160 | 4 | 67740682 | missense variant | C/T | snv | 1.8E-03 | 1.3E-03 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
14 | 0.742 | 0.240 | 19 | 10180505 | missense variant | T/C | snv | 2.4E-02 | 9.6E-03 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.040 | 4 | 86828144 | missense variant | G/A | snv | 2.3E-03 | 1.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||
|
42 | 0.611 | 0.600 | 11 | 67586108 | missense variant | C/T | snv | 5.9E-02 | 5.5E-02 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
6 | 0.882 | 0.120 | 6 | 31740551 | missense variant | C/T | snv | 0.13 | 9.1E-02 | 0.020 | 1.000 | 2 | 2010 | 2012 | |||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 19 | 4908263 | intron variant | C/T | snv | 1.0E-01 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 5 | 23528117 | 3 prime UTR variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.040 | 1 | 107058247 | 3 prime UTR variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
70 | 0.559 | 0.760 | 1 | 226367601 | missense variant | A/G | snv | 0.21 | 0.15 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
53 | 0.585 | 0.560 | 3 | 14158387 | missense variant | G/A | snv | 0.24 | 0.21 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
135 | 0.496 | 0.800 | 1 | 236885200 | missense variant | A/G | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
1 | 1.000 | 0.040 | 6 | 42603608 | synonymous variant | A/T | snv | 0.20 | 0.21 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
3 | 0.925 | 0.040 | 9 | 78405502 | intergenic variant | G/C | snv | 0.22 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
30 | 0.653 | 0.400 | 3 | 36993455 | 5 prime UTR variant | G/A | snv | 0.22 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 |