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 | 12 | 92411657 | regulatory region variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||||
|
5 | 0.851 | 0.440 | 6 | 31090401 | intergenic variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
100 | 0.532 | 0.760 | 17 | 63490960 | missense variant | T/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 1.000 | 0.040 | 15 | 34791238 | missense variant | A/G | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 15 | 34792471 | missense variant | G/A | snv | 0.700 | 0 | ||||||||||
|
2 | 1.000 | 0.040 | 15 | 34792092 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.080 | 1 | 236739384 | missense variant | T/G | snv | 8.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
3 | 0.925 | 0.040 | 1 | 236719007 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2010 | 2010 | |||||
|
1 | 2 | 70716718 | intron variant | A/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2010 | 2010 | ||||||
|
34 | 0.683 | 0.440 | 10 | 114045297 | missense variant | G/C | snv | 0.74 | 0.69 | 0.010 | 1.000 | 1 | 2002 | 2002 | |||
|
10 | 0.851 | 0.040 | 14 | 104741231 | missense variant | G/A | snv | 3.4E-05 | 2.8E-05 | 0.700 | 0 | ||||||
|
134 | 0.501 | 0.800 | 1 | 230710048 | missense variant | A/G | snv | 0.55 | 0.58 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
45 | 0.708 | 0.440 | 19 | 1242559 | missense variant | C/T | snv | 6.7E-06 | 0.700 | 1.000 | 1 | 2018 | 2018 | ||||
|
7 | 0.827 | 0.120 | 10 | 119676917 | missense variant | G/A | snv | 0.710 | 1.000 | 4 | 2011 | 2017 | |||||
|
4 | 0.882 | 0.120 | 10 | 119676479 | stop gained | C/A;T | snv | 4.0E-06 | 0.700 | 1.000 | 4 | 2011 | 2014 | ||||
|
3 | 0.925 | 0.080 | 10 | 119670037 | stop gained | C/T | snv | 8.0E-06 | 0.700 | 1.000 | 3 | 2011 | 2015 | ||||
|
2 | 1.000 | 10 | 119676617 | frameshift variant | C/- | delins | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||||
|
1 | 10 | 119651752 | stop gained | G/A | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||||
|
3 | 1.000 | 0.040 | 10 | 119670121 | missense variant | T/C | snv | 0.17 | 0.15 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 10 | 119669920 | frameshift variant | -/TGTGTAC | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 119651742 | frameshift variant | C/-;CC | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 119651774 | frameshift variant | ACCGGCTG/- | delins | 0.700 | 0 | ||||||||||
|
1 | 10 | 119676851 | stop gained | C/T | snv | 0.700 | 0 | ||||||||||
|
1 | 10 | 119672657 | splice donor variant | G/A | snv | 0.700 | 0 | ||||||||||
|
3 | 0.925 | 0.080 | 10 | 119672477 | stop gained | C/T | snv | 0.700 | 0 |