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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.925 | 0.040 | X | 104013293 | missense variant | T/C | snv | 0.38 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 22 | 24748945 | missense variant | C/G;T | snv | 0.23 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
2 | 1.000 | 0.040 | 22 | 50776482 | intron variant | G/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
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 | |||
|
1 | 1.000 | 0.040 | 20 | 1937841 | 3 prime UTR variant | G/T | snv | 0.50 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
5 | 0.851 | 0.040 | 20 | 1778944 | intron variant | C/G;T | snv | 9.6E-02 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
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 | |||
|
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 | |||
|
19 | 0.708 | 0.520 | 19 | 10156401 | synonymous variant | T/A;C | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
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 | 19 | 4909617 | missense variant | C/G | snv | 0.38 | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
242 | 0.426 | 0.800 | 17 | 7676154 | missense variant | G/C;T | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
214 | 0.439 | 0.800 | 17 | 7676154 | frameshift variant | -/C | ins | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
213 | 0.439 | 0.800 | 17 | 7676153 | missense variant | GG/AC | mnv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.040 | 16 | 11281137 | missense variant | C/A;G | snv | 8.7E-03; 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.040 | 15 | 50424871 | intron variant | G/A;T | snv | 0.020 | 1.000 | 2 | 2015 | 2018 | |||||
|
9 | 0.776 | 0.240 | 14 | 75047125 | missense variant | G/A | snv | 0.40 | 0.43 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
22 | 0.708 | 0.520 | 14 | 35401887 | 3 prime UTR variant | C/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.925 | 0.040 | 13 | 42906069 | intron variant | G/A | snv | 0.27 | 0.020 | 1.000 | 2 | 2015 | 2018 | ||||
|
29 | 0.653 | 0.440 | 13 | 32332592 | missense variant | A/C | snv | 0.28 | 0.23 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.851 | 0.040 | 12 | 24031610 | intron variant | G/C | snv | 0.43 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 12 | 23584632 | intron variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
6 | 0.827 | 0.240 | 12 | 88560182 | intron variant | G/A | snv | 0.65 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
9 | 0.776 | 0.320 | 12 | 88496894 | 3 prime UTR variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
2 | 0.925 | 0.080 | 11 | 30230805 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 |