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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.827 | 0.240 | 3 | 30688470 | stop gained | C/G;T | snv | 0.700 | 0 | ||||||||
|
1 | 1.000 | 0.080 | 5 | 41925333 | missense variant | C/G | snv | 2.0E-02 | 1.1E-02 | 0.700 | 0 | ||||||
|
47 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
4 | 0.851 | 0.120 | 16 | 78425054 | stop gained | C/G;T | snv | 1.6E-05 | 0.700 | 0 | |||||||
|
1 | 1.000 | 0.080 | 4 | 55653725 | intergenic variant | T/C | snv | 0.41 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.120 | 5 | 59111944 | intron variant | C/A | snv | 0.17 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 5 | 149524529 | intron variant | A/T | snv | 0.64 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.080 | 6 | 40834522 | intergenic variant | T/C | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94347914 | intron variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 90862614 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 0.925 | 0.120 | 12 | 26537632 | intron variant | A/C;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 94326321 | intron variant | T/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94330915 | 3 prime UTR variant | A/G | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
15 | 0.763 | 0.360 | 12 | 111681367 | intron variant | T/C | snv | 5.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 111702865 | intron variant | A/G | snv | 9.1E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.120 | 12 | 111730205 | intron variant | G/A | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
27 | 0.742 | 0.280 | 12 | 112379979 | intron variant | T/A | snv | 7.0E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 106056773 | intron variant | G/A | snv | 7.3E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94296872 | intron variant | C/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 10 | 94312471 | intron variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 94330382 | 3 prime UTR variant | C/T | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 159804618 | intron variant | T/C | snv | 0.26 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 4 | 9910477 | intron variant | A/G | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
20 | 0.763 | 0.320 | 12 | 110976657 | intergenic variant | T/G | snv | 4.8E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.925 | 0.120 | 12 | 112136812 | intron variant | C/T | snv | 5.9E-03 | 0.700 | 1.000 | 1 | 2011 | 2011 |