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 | 7 | 95434956 | missense variant | C/T | snv | 1.2E-02 | 1.4E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
4 | 0.882 | 0.240 | 7 | 95425028 | intron variant | T/C;G | snv | 0.010 | < 0.001 | 1 | 2011 | 2011 | |||||
|
1 | 7 | 95403792 | downstream gene variant | C/G | snv | 1.4E-02 | 0.010 | < 0.001 | 1 | 2011 | 2011 | ||||||
|
6 | 0.851 | 0.280 | 6 | 90216893 | intron variant | C/A | snv | 0.33 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 10 | 79298270 | intron variant | A/C;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
5 | 0.882 | 0.200 | 2 | 68371823 | intron variant | T/A;C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
2 | 2 | 65381775 | intron variant | C/T | snv | 0.45 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
2 | 2 | 65379519 | intron variant | T/C | snv | 0.49 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.160 | 2 | 65368452 | intron variant | G/A;T | snv | 0.54 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.160 | 10 | 6351298 | non coding transcript exon variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
7 | 0.827 | 0.200 | 2 | 60959694 | intron variant | A/G | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 2 | 60943910 | intron variant | A/G | snv | 0.48 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||||
|
3 | 1.000 | 0.080 | 2 | 60937594 | non coding transcript exon variant | T/G | snv | 0.47 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 1.000 | 0.120 | 2 | 60908994 | intron variant | G/T | snv | 0.25 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
19 | 0.695 | 0.320 | 10 | 6056986 | intron variant | C/T | snv | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.160 | 3 | 58571114 | intron variant | T/C | snv | 0.15 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
9 | 0.790 | 0.320 | 12 | 57574932 | intron variant | C/G | snv | 0.42 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 5 | 56264200 | upstream gene variant | T/G | snv | 0.34 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||||
|
4 | 0.925 | 0.160 | 5 | 56142753 | intron variant | C/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
42 | 0.630 | 0.680 | 3 | 52222681 | synonymous variant | C/A;G;T | snv | 2.0E-05; 0.49 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 19 | 49660781 | frameshift variant | G/- | delins | 4.1E-06 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||||
|
5 | 0.882 | 0.200 | 3 | 46193709 | intron variant | C/G;T | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
16 | 0.732 | 0.480 | 20 | 46119308 | intron variant | T/A;G | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.790 | 0.240 | 21 | 44227538 | 3 prime UTR variant | T/C | snv | 0.700 | 1.000 | 1 | 2011 | 2011 | |||||
|
9 | 0.807 | 0.240 | 21 | 42416077 | intron variant | G/A | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 |