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 | 0.120 | 20 | 10306436 | 3 prime UTR variant | G/T | snv | 0.68 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
56 | 0.620 | 0.400 | 11 | 113400106 | missense variant | G/A | snv | 0.26 | 0.26 | 0.020 | 1.000 | 2 | 2012 | 2016 | |||
|
36 | 0.689 | 0.480 | 11 | 113412737 | synonymous variant | G/A | snv | 0.41 | 0.38 | 0.020 | 1.000 | 2 | 2009 | 2010 | |||
|
3 | 0.925 | 0.080 | 11 | 113476233 | upstream gene variant | A/G | snv | 5.8E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 12 | 117313620 | intron variant | G/A | snv | 0.35 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 18 | 11774501 | intron variant | A/G | snv | 0.31 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||||
|
93 | 0.535 | 0.840 | 1 | 11794419 | missense variant | T/G | snv | 0.29 | 0.26 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
174 | 0.472 | 0.880 | 1 | 11796321 | missense variant | G/A | snv | 0.31 | 0.27 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
3 | 0.925 | 0.080 | 7 | 136946956 | intron variant | T/C | snv | 0.69 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 1.000 | 0.040 | 12 | 13713238 | intron variant | C/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
9 | 0.882 | 0.160 | 4 | 139386152 | stop gained | C/G | snv | 0.700 | 0 | ||||||||
|
11 | 0.807 | 0.120 | 5 | 1394407 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
3 | 1.000 | 0.040 | 7 | 153838604 | intergenic variant | C/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.807 | 0.080 | 5 | 175441697 | 3 prime UTR variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.827 | 0.160 | 5 | 175443147 | 5 prime UTR variant | C/T | snv | 0.68 | 0.72 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
6 | 0.851 | 0.160 | 5 | 175443193 | 5 prime UTR variant | C/T | snv | 0.15 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.925 | 0.080 | 5 | 175443899 | 5 prime UTR variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||||
|
2 | 1.000 | 0.080 | 5 | 175445317 | upstream gene variant | A/G | snv | 5.2E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
18 | 0.776 | 0.160 | 17 | 17795417 | frameshift variant | -/G | delins | 0.700 | 0 | ||||||||
|
1 | 11 | 18039853 | intron variant | T/C | snv | 0.78 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
249 | 0.442 | 0.920 | 22 | 19963748 | missense variant | G/A | snv | 0.46 | 0.44 | 0.080 | 1.000 | 8 | 2006 | 2014 | |||
|
1 | 13 | 21619823 | intergenic variant | A/G | snv | 0.27 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
4 | 2 | 231108702 | missense variant | T/C | snv | 6.3E-03 | 2.5E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
4 | 0.925 | 0.080 | 2 | 231123707 | stop gained | G/A | snv | 1.5E-03 | 1.2E-03 | 0.020 | 1.000 | 2 | 2015 | 2017 |