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 | 0.882 | 0.040 | 7 | 106769006 | intron variant | G/A | snv | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.080 | 3 | 186854295 | missense variant | A/G | snv | 6.4E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
3 | 0.925 | 0.040 | 1 | 21259168 | intron variant | T/C | snv | 0.12 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 6 | 32183517 | intron variant | T/C | snv | 1.7E-02 | 5.8E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.882 | 0.160 | 9 | 104822520 | missense variant | T/C | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.160 | 6 | 25771819 | intron variant | A/C;G | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
3 | 0.882 | 0.040 | 1 | 172377256 | intron variant | T/A | snv | 0.70 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
3 | 0.882 | 0.080 | 2 | 113132839 | missense variant | G/C | snv | 2.0E-05 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
3 | 0.882 | 0.080 | 8 | 104248720 | missense variant | C/T | snv | 1.6E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 2000 | 2000 | |||
|
3 | 0.882 | 0.080 | 1 | 154841792 | intron variant | G/C | snv | 0.30 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
3 | 0.882 | 0.080 | 3 | 186843903 | intron variant | G/A | snv | 1.8E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 0.882 | 0.120 | 1 | 209707123 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.080 | 1 | 150579475 | frameshift variant | -/C | delins | 4.7E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.080 | 3 | 38607330 | intron variant | C/T | snv | 2.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
3 | 0.882 | 0.040 | 8 | 58505103 | upstream gene variant | A/T | snv | 0.55 | 0.010 | < 0.001 | 1 | 2015 | 2015 | ||||
|
3 | 0.882 | 0.040 | 11 | 18269755 | missense variant | G/A | snv | 2.1E-03 | 8.0E-04 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
3 | 0.882 | 0.040 | 15 | 89030987 | intergenic variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 0.882 | 0.080 | 17 | 81696901 | synonymous variant | T/C | snv | 0.21 | 0.26 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
4 | 0.851 | 0.080 | 12 | 12164494 | missense variant | G/A | snv | 1.6E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.080 | 10 | 45373723 | upstream gene variant | T/C | snv | 0.17 | 0.010 | < 0.001 | 1 | 2008 | 2008 | ||||
|
4 | 0.882 | 0.080 | 1 | 176206716 | missense variant | C/T | snv | 1.4E-05 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.882 | 0.080 | 3 | 12416849 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 17 | 64309731 | upstream gene variant | C/T | snv | 0.65 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.120 | 2 | 21003286 | missense variant | G/A | snv | 4.0E-05 | 4.2E-05 | 0.010 | 1.000 | 1 | 1989 | 1989 | |||
|
4 | 0.851 | 0.240 | 16 | 11257134 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2016 | 2016 |