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 | 17 | 44911317 | missense variant | T/G | snv | 0.700 | 0 | ||||||||
|
2 | 0.925 | 0.200 | 10 | 101226832 | 3 prime UTR variant | A/C | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.040 | 16 | 30089130 | missense variant | G/A | snv | 2.2E-04 | 1.0E-04 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||
|
2 | 0.925 | 0.040 | 16 | 3728803 | stop gained | G/A | snv | 0.700 | 0 | ||||||||
|
3 | 0.882 | 0.200 | 11 | 124870650 | missense variant | G/A;C | snv | 1.2E-05; 4.0E-06 | 0.010 | 1.000 | 1 | 2006 | 2006 | ||||
|
3 | 0.882 | 0.120 | 10 | 62813562 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.120 | 10 | 62813412 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2005 | 2005 | ||||
|
4 | 0.882 | 0.200 | 3 | 149364 | intron variant | G/A | snv | 0.31 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.882 | 0.120 | X | 154030944 | frameshift variant | CGGAT/- | delins | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
4 | 0.851 | 0.200 | 10 | 101237824 | intron variant | G/A | snv | 0.51 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.851 | 0.160 | 12 | 80717084 | frameshift variant | AGTTCTCACC/- | delins | 0.700 | 0 | ||||||||
|
4 | 0.851 | 0.160 | 12 | 80717346 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
4 | 0.882 | 0.120 | 10 | 87960913 | stop gained | G/A;T | snv | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 18 | 52923796 | frameshift variant | TTTCTGG/- | delins | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
5 | 0.882 | 0.160 | 8 | 143817668 | frameshift variant | -/TTTT | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.160 | 10 | 87952144 | frameshift variant | -/T | delins | 0.700 | 0 | ||||||||
|
5 | 0.851 | 0.080 | 17 | 10642825 | splice donor variant | C/T | snv | 7.0E-06 | 0.700 | 0 | |||||||
|
5 | 0.925 | 0.080 | 19 | 38469119 | missense variant | C/T | snv | 1.2E-05 | 1.4E-05 | 0.700 | 0 | ||||||
|
6 | 0.827 | 0.200 | 10 | 101219450 | intergenic variant | T/A;C | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
6 | 0.827 | 0.240 | 15 | 48430742 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.120 | 8 | 60854479 | stop gained | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.882 | 0.120 | 12 | 47984112 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
6 | 0.925 | 0.040 | X | 136016706 | frameshift variant | GT/- | delins | 0.700 | 0 | ||||||||
|
6 | 0.851 | 0.240 | X | 53536600 | missense variant | T/A | snv | 0.700 | 0 | ||||||||
|
6 | 0.827 | 0.120 | 17 | 10654924 | stop gained | A/C | snv | 0.700 | 0 |