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 | 1.000 | 0.040 | 5 | 148825489 | 5 prime UTR variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 11 | 98254676 | intergenic variant | A/C;G;T | snv | 0.800 | 1.000 | 1 | 2010 | 2010 | |||||||
|
9 | 0.827 | 0.040 | 3 | 52799203 | intron variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
12 | 0.790 | 0.120 | 7 | 147877298 | intron variant | A/G;T | snv | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
3 | 1.000 | 0.040 | 3 | 197295369 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
306 | 0.405 | 0.880 | 1 | 11794407 | missense variant | T/G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
4 | 0.925 | 0.040 | 5 | 88558577 | intron variant | A/C;G;T | snv | 0.010 | < 0.001 | 1 | 2019 | 2019 | |||||
|
6 | 0.851 | 0.120 | 1 | 53246063 | 3 prime UTR variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2020 | 2020 | |||||
|
16 | 0.732 | 0.280 | 17 | 30222880 | 5 prime UTR variant | G/C;T | snv | 0.010 | < 0.001 | 1 | 2020 | 2020 | |||||
|
23 | 0.689 | 0.160 | 14 | 73198100 | missense variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
42 | 0.645 | 0.280 | 17 | 46010389 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2018 | 2018 | |||||
|
13 | 0.790 | 0.120 | 8 | 31638065 | upstream gene variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | X | 53947621 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||||
|
5 | 0.882 | 0.040 | 20 | 35652946 | stop gained | C/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 7 | 146254550 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
19 | 0.732 | 0.360 | 11 | 17387917 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
13 | 0.827 | 0.080 | 6 | 35678658 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
2 | 1 | 156115240 | missense variant | A/G | snv | 2.5E-05 | 7.0E-06 | 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 | 0.750 | 4 | 2006 | 2012 | |||
|
1 | 1 | 156136335 | missense variant | C/T | snv | 2.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 156136245 | missense variant | C/T | snv | 2.4E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 1 | 156139089 | missense variant | A/G | snv | 1.2E-04 | 1.0E-04 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
8 | 0.827 | 0.200 | 5 | 63961061 | missense variant | C/A | snv | 3.7E-03 | 3.8E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | |||
|
116 | 0.529 | 0.840 | 12 | 111803962 | missense variant | G/A | snv | 1.9E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 5 | 63961638 | missense variant | T/C | snv | 9.4E-03 | 9.3E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 |