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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 | 0.882 | 0.040 | 16 | 75216819 | upstream gene variant | G/A | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
26 | 0.658 | 0.600 | 11 | 102845217 | upstream gene variant | -/C;G | ins | 2.8E-04 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.160 | 6 | 35389916 | intron variant | C/G | snv | 8.4E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.882 | 0.040 | 5 | 151022235 | intron variant | A/G | snv | 0.67 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.807 | 0.200 | 11 | 61827449 | intron variant | T/- | del | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.040 | 7 | 93886765 | 3 prime UTR variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
9 | 0.776 | 0.200 | 7 | 73702147 | intron variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
60 | 0.574 | 0.680 | 11 | 111511840 | intron variant | T/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
25 | 0.695 | 0.320 | 17 | 30117165 | 5 prime UTR variant | A/C;T | snv | 0.50; 3.1E-05 | 0.010 | < 0.001 | 1 | 2019 | 2019 | ||||
|
10 | 0.827 | 0.120 | 19 | 44878777 | 3 prime UTR variant | A/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
9 | 0.827 | 0.160 | 5 | 156963286 | upstream gene variant | T/C | snv | 0.56 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
3 | 0.882 | 0.040 | 6 | 35385746 | intron variant | A/G | snv | 0.24 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
18 | 0.689 | 0.400 | 7 | 22728790 | missense variant | A/G;T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
6 | 0.827 | 0.120 | 8 | 11187652 | intron variant | G/A;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
10 | 0.790 | 0.200 | 7 | 150997269 | intron variant | GGGGGTGAGGAAGTCTAGACCTGCTGCG/A | delins | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
7 | 0.807 | 0.160 | 6 | 31730180 | 5 prime UTR variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
13 | 0.790 | 0.160 | 9 | 104858554 | missense variant | G/A | snv | 1.3E-02 | 4.4E-03 | 0.010 | 1.000 | 1 | 2019 | 2019 | |||
|
54 | 0.608 | 0.680 | 7 | 150992991 | intron variant | C/T | snv | 0.70 | 0.020 | 1.000 | 2 | 2018 | 2019 | ||||
|
19 | 0.695 | 0.360 | 22 | 42130692 | missense variant | G/A | snv | 0.21 | 0.19 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
11 | 0.763 | 0.160 | 12 | 124827879 | intron variant | G/C | snv | 0.32 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
4 | 0.882 | 0.040 | 16 | 2110972 | missense variant | A/G | snv | 6.5E-02 | 7.8E-02 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.040 | 1 | 230063651 | intron variant | C/T | snv | 0.28 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.882 | 0.040 | 8 | 75012585 | intron variant | A/C | snv | 0.33 | 0.44 | 0.010 | 1.000 | 1 | 2018 | 2018 | |||
|
3 | 0.882 | 0.040 | 9 | 69340801 | intron variant | A/G | snv | 0.12 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
16 | 0.851 | 0.040 | 1 | 109274968 | 3 prime UTR variant | G/T | snv | 0.22 | 0.010 | 1.000 | 1 | 2018 | 2018 |