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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 21 | 42281867 | intron variant | A/G | snv | 0.52 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||||
|
6 | 0.882 | 0.240 | X | 107640938 | missense variant | A/G | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
5 | 0.925 | 0.240 | X | 107650000 | missense variant | G/T | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.040 | 1 | 220143109 | missense variant | C/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 4 | 181371930 | intergenic variant | C/A | snv | 0.52 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
10 | 0.827 | 0.160 | 2 | 240785062 | missense variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2016 | 2016 | |||||
|
4 | 0.925 | 0.080 | 1 | 34784797 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
32 | 0.683 | 0.320 | 20 | 4699525 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 1996 | 1996 | |||||
|
9 | 0.807 | 0.440 | 12 | 7202274 | frameshift variant | -/A | delins | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 1.000 | 20 | 4699698 | stop gained | C/T | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
2 | 16 | 83591958 | intron variant | A/C | snv | 0.68 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
4 | 0.925 | 0.160 | 4 | 153324126 | missense variant | A/C | snv | 0.010 | 1.000 | 1 | 2015 | 2015 | |||||
|
3 | 0.925 | 0.080 | 8 | 81444935 | missense variant | A/T | snv | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
2 | 7 | 96096624 | intron variant | A/G | snv | 0.20 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
7 | 0.851 | 0.120 | 5 | 609978 | intron variant | C/T | snv | 0.32 | 0.010 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.851 | 0.240 | 18 | 31595212 | missense variant | A/T | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2003 | 2003 | ||||
|
4 | 0.925 | 0.120 | 22 | 50527165 | inframe deletion | AGC/- | delins | 0.700 | 0 | ||||||||
|
34 | 0.827 | 0.120 | 3 | 49047207 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 8 | 81444908 | missense variant | A/G | snv | 0.700 | 0 | |||||||||
|
7 | 0.851 | 0.200 | 12 | 6870074 | missense variant | G/A | snv | 0.700 | 0 | ||||||||
|
11 | 0.827 | 0.200 | 8 | 24956452 | missense variant | G/A;T | snv | 0.700 | 0 | ||||||||
|
12 | 0.790 | 0.440 | 7 | 140777014 | missense variant | C/A | snv | 0.700 | 0 | ||||||||
|
9 | 0.882 | 0.280 | 16 | 16178961 | missense variant | A/G;T | snv | 0.700 | 0 | ||||||||
|
2 | 1.000 | 0.040 | 1 | 156115262 | missense variant | A/T | snv | 0.700 | 0 | ||||||||
|
11 | 0.851 | 0.240 | 1 | 145916914 | stop gained | G/A | snv | 4.0E-06 | 0.700 | 0 |