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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 | 10 | 118867050 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 10 | 103138228 | intron variant | T/C;G | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
3 | 9 | 134060541 | intron variant | G/T | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 3 | 129062206 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
1 | 3 | 119780660 | 5 prime UTR variant | T/C | snv | 0.47 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||||
|
1 | 21 | 34799310 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||||
|
2 | 12 | 112663189 | intron variant | C/A | snv | 0.26 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 5 | 87412904 | 5 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||||
|
2 | 7 | 30922175 | missense variant | G/A | snv | 3.1E-02 | 2.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 17 | 1869979 | intron variant | G/A | snv | 0.24 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 4 | 71028147 | intron variant | C/T | snv | 0.49 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
1 | 11 | 36503205 | intron variant | A/G | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 11 | 36493896 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
1 | 1 | 43338592 | missense variant | G/A | snv | 4.0E-06 | 7.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
3 | 1.000 | 12 | 11885968 | missense variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
3 | 1.000 | 12 | 11884541 | missense variant | G/A | snv | 7.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
1 | 3 | 184375917 | missense variant | G/A | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||||
|
1 | 13 | 95206759 | missense variant | T/C;G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||||
|
3 | 1.000 | 4 | 87265357 | intron variant | G/A | snv | 0.40 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 12 | 6057915 | missense variant | G/A;C | snv | 1.6E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 1992 | 1992 | |||||
|
1 | 1 | 23798701 | missense variant | G/A | snv | 2.0E-05 | 2.1E-05 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
1 | 9 | 36246181 | missense variant | A/G | snv | 8.0E-06 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||||
|
1 | 13 | 80057282 | intron variant | C/A | snv | 0.17 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
2 | 1.000 | 11 | 128810620 | frameshift variant | ATTA/- | delins | 0.700 | 0 | |||||||||
|
5 | 1 | 22086463 | missense variant | G/A | snv | 0.700 | 0 |