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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
10 | 0.790 | 0.160 | 11 | 17394295 | missense variant | C/T | snv | 0.020 | 1.000 | 2 | 2003 | 2011 | |||||
|
2 | 0.925 | 0.160 | 11 | 17470170 | missense variant | T/C | snv | 2.5E-04 | 5.6E-05 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.240 | 19 | 17816591 | 3 prime UTR variant | C/T | snv | 0.69 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 16 | 1792152 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
25 | 0.689 | 0.440 | 4 | 1806162 | missense variant | A/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.790 | 0.120 | 3 | 183840614 | missense variant | C/G;T | snv | 0.46; 1.2E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.040 | 4 | 184816689 | intron variant | G/A | snv | 0.25 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
37 | 0.637 | 0.560 | 3 | 186841685 | upstream gene variant | C/A;G;T | snv | 0.010 | 1.000 | 1 | 2013 | 2013 | |||||
|
48 | 0.608 | 0.720 | 3 | 186853103 | synonymous variant | T/C;G | snv | 8.0E-06; 0.13 | 0.010 | < 0.001 | 1 | 2010 | 2010 | ||||
|
3 | 0.925 | 0.080 | 9 | 19119676 | missense variant | A/G | snv | 4.1E-02 | 4.0E-02 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
41 | 0.637 | 0.480 | 8 | 19956018 | missense variant | A/G | snv | 1.3E-02 | 1.3E-02 | 0.010 | 1.000 | 1 | 1996 | 1996 | |||
|
18 | 0.763 | 0.160 | 2 | 226229029 | intergenic variant | T/C | snv | 0.67 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
4 | 0.925 | 0.080 | 2 | 231123707 | stop gained | G/A | snv | 1.5E-03 | 1.2E-03 | 0.010 | 1.000 | 1 | 2016 | 2016 | |||
|
28 | 0.667 | 0.440 | 4 | 23814039 | missense variant | C/T | snv | 0.31 | 0.26 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
2 | 1.000 | 0.040 | 1 | 247438055 | intron variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.040 | 1 | 247451315 | missense variant | C/T | snv | 0.41 | 0.35 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
9 | 0.763 | 0.240 | 20 | 44406195 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.080 | 20 | 44424116 | missense variant | C/A;T | snv | 8.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
12 | 0.807 | 0.200 | 19 | 45679046 | intron variant | T/A | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
40 | 0.637 | 0.600 | 22 | 46198429 | missense variant | G/C;T | snv | 4.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2001 | 2001 | ||||
|
98 | 0.559 | 0.720 | 16 | 53786615 | intron variant | T/A | snv | 0.41 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
7 | 0.807 | 0.360 | 12 | 56339747 | synonymous variant | G/A | snv | 4.9E-02 | 4.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
8 | 0.807 | 0.280 | 12 | 56344189 | intron variant | A/G | snv | 0.21 | 0.010 | 1.000 | 1 | 2019 | 2019 |