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 | 0.925 | 0.120 | X | 50439186 | intron variant | G/A | snv | 0.46 | 0.720 | 1.000 | 2 | 2011 | 2015 | ||||
|
2 | 0.925 | 0.120 | 2 | 42788579 | missense variant | T/C | snv | 0.80 | 0.80 | 0.710 | 1.000 | 2 | 2014 | 2019 | |||
|
2 | 0.925 | 0.120 | X | 50460404 | intron variant | A/C | snv | 0.45 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
2 | 0.925 | 0.120 | 16 | 55307223 | intron variant | T/C | snv | 0.30 | 0.710 | 1.000 | 2 | 2014 | 2019 | ||||
|
1 | 1.000 | 0.120 | 7 | 27745330 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 10 | 76935709 | intron variant | A/G | snv | 0.38 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 6 | 143568902 | intron variant | G/A | snv | 0.62 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 5 | 457146 | non coding transcript exon variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 4 | 156419058 | intergenic variant | C/T | snv | 0.37 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 12 | 82354560 | missense variant | T/C;G | snv | 2.6E-05; 2.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 71165720 | intron variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 16 | 55038095 | intergenic variant | C/A | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 8 | 129478919 | intron variant | T/C | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 10 | 74640406 | intron variant | C/T | snv | 0.27 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 27128971 | splice region variant | A/G | snv | 0.16 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
2 | 1.000 | 0.120 | 16 | 72990377 | intron variant | C/T | snv | 0.28 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 84679791 | intron variant | T/C | snv | 0.74 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 3 | 128173194 | intron variant | T/C | snv | 0.30 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 15 | 32731784 | 3 prime UTR variant | A/G;T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
1 | 1.000 | 0.120 | 11 | 8730093 | missense variant | G/C | snv | 0.32 | 0.27 | 0.700 | 1.000 | 1 | 2014 | 2014 | |||
|
1 | 1.000 | 0.120 | 6 | 39760057 | intergenic variant | G/A;C | snv | 0.53 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 5 | 158490267 | intron variant | G/A | snv | 0.73 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 7 | 46362671 | intergenic variant | C/A | snv | 5.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 16 | 86404161 | regulatory region variant | T/C | snv | 0.33 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.120 | 2 | 42060166 | downstream gene variant | G/A | snv | 0.25 | 0.700 | 1.000 | 1 | 2014 | 2014 |