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 | 6 | 154039743 | missense variant | A/G | snv | 1.2E-05 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
17 | 0.732 | 0.240 | X | 154030912 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.827 | 0.160 | 17 | 30197786 | 3 prime UTR variant | A/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
24 | 0.683 | 0.480 | 15 | 81296654 | intron variant | T/C | snv | 0.24 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
9 | 0.807 | 0.200 | X | 154031326 | stop gained | G/A;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.851 | 0.200 | 6 | 154091047 | missense variant | G/A | snv | 1.2E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1 | 156871656 | synonymous variant | C/T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
2 | 6 | 154039497 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||||
|
23 | 0.716 | 0.280 | 11 | 27658285 | missense variant | C/A;T | snv | 4.0E-06 | 1.4E-05 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
1 | 14 | 94305204 | intron variant | C/T | snv | 0.19 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||||
|
2 | 1.000 | 0.080 | 1 | 156868159 | missense variant | T/A;C | snv | 4.0E-06; 4.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | ||||
|
2 | 1.000 | 0.080 | 1 | 156866944 | missense variant | T/C | snv | 8.0E-06 | 7.0E-06 | 0.020 | 1.000 | 2 | 2010 | 2011 | |||
|
1 | 17 | 76503318 | upstream gene variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||||
|
1 | 13 | 46899085 | upstream gene variant | G/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||||
|
35 | 0.724 | 0.240 | 11 | 5227002 | missense variant | T/A;C;G | snv | 3.5E-03 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.040 | 2 | 233916448 | upstream gene variant | T/C | snv | 0.40 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
47 | 0.608 | 0.760 | 6 | 31574531 | upstream gene variant | T/C | snv | 0.19 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
101 | 0.531 | 0.840 | 5 | 7870860 | missense variant | A/G | snv | 0.47 | 0.45 | 0.010 | 1.000 | 1 | 2012 | 2012 | |||
|
2 | 12 | 121184366 | missense variant | C/G;T | snv | 4.0E-06; 3.6E-05 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
5 | 1.000 | 0.040 | 5 | 148825809 | 5 prime UTR variant | A/G | snv | 0.59 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
7 | 0.827 | 0.120 | 1 | 46408711 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
1 | 10 | 99798989 | intron variant | G/T | snv | 0.53 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||||
|
3 | 0.925 | 0.120 | 1 | 46406314 | stop gained | T/A;C | snv | 0.87 | 0.010 | 1.000 | 1 | 2012 | 2012 |