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 | 1.000 | 0.040 | 9 | 21970929 | missense variant | G/A;C | snv | 5.6E-04 | 2.6E-03 | 0.700 | 0 | ||||||
|
2 | 1.000 | 0.040 | 10 | 89014205 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 89008907 | missense variant | A/G | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 10 | 89010779 | missense variant | T/C | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.040 | 9 | 95467191 | missense variant | C/A;T | snv | 4.0E-06; 3.8E-04 | 0.700 | 0 | |||||||
|
2 | 1.000 | 0.040 | 9 | 21970980 | missense variant | C/A;G | snv | 1.3E-03; 4.1E-06 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.040 | 9 | 95449149 | missense variant | C/T | snv | 2.4E-05 | 0.700 | 0 | |||||||
|
4 | 0.882 | 0.080 | 18 | 36114157 | synonymous variant | G/A | snv | 0.33 | 0.30 | 0.800 | 1.000 | 1 | 2013 | 2013 | |||
|
7 | 0.807 | 0.120 | 7 | 21544470 | intron variant | G/A | snv | 0.44 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
11 | 0.752 | 0.240 | 6 | 40568389 | intron variant | G/A | snv | 0.51 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
3 | 0.925 | 0.080 | 12 | 100426307 | downstream gene variant | A/G | snv | 8.7E-02 | 0.710 | 1.000 | 1 | 2013 | 2013 | ||||
|
33 | 0.662 | 0.320 | 6 | 160589086 | intron variant | A/G | snv | 4.3E-02 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.080 | 9 | 16884588 | regulatory region variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2019 | 2019 | |||||
|
16 | 0.763 | 0.240 | 1 | 55030366 | intergenic variant | T/A;C;G | snv | 0.700 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 1.000 | 0.040 | 3 | 188370473 | intron variant | A/G | snv | 0.36 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 16 | 89388583 | intron variant | T/C | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 55181437 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.040 | 7 | 55181438 | missense variant | G/A | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
4 | 0.851 | 0.040 | 6 | 4979722 | downstream gene variant | C/T | snv | 0.34 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
13 | 0.742 | 0.080 | 15 | 28165345 | intron variant | C/T | snv | 0.50 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.040 | 9 | 136446350 | intron variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 13 | 32354271 | intron variant | G/A | snv | 0.54 | 0.700 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 15 | 28088564 | intron variant | G/A | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
2 | 1.000 | 0.040 | 17 | 2268343 | intron variant | C/A | snv | 0.28 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
53 | 0.597 | 0.480 | 22 | 28725099 | missense variant | A/C;G | snv | 4.1E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 |