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 | 0.200 | 17 | 34253212 | upstream gene variant | T/A | snv | 0.85 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
63 | 0.568 | 0.800 | 17 | 34252769 | upstream gene variant | A/G | snv | 0.28 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
2 | 0.925 | 0.080 | 2 | 68425042 | intergenic variant | C/A | snv | 0.55 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 5 | 143693985 | intron variant | A/G | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 12 | 125711743 | intergenic variant | G/A | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 203747715 | downstream gene variant | C/T | snv | 2.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 11 | 94347083 | intergenic variant | T/G | snv | 2.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 165016519 | intergenic variant | G/A | snv | 2.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 3 | 145768292 | regulatory region variant | G/A | snv | 0.71 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
28 | 0.752 | 0.320 | 9 | 133278724 | upstream gene variant | C/T | snv | 0.81 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 15 | 25584050 | downstream gene variant | G/A | snv | 7.7E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 1 | 233818485 | intergenic variant | G/A | snv | 1.8E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
1 | 1.000 | 0.080 | 2 | 64822719 | intergenic variant | A/G | snv | 0.83 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
6 | 0.807 | 0.320 | 3 | 186856286 | 3 prime UTR variant | C/T | snv | 9.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
10 | 0.763 | 0.480 | 3 | 186856375 | 3 prime UTR variant | T/A;C | snv | 0.010 | 1.000 | 1 | 2019 | 2019 | |||||
|
5 | 0.851 | 0.200 | 3 | 186854025 | intron variant | G/A | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
1 | 1.000 | 0.080 | 3 | 186856550 | 3 prime UTR variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
65 | 0.578 | 0.640 | 8 | 37966280 | missense variant | A/G | snv | 0.11 | 9.2E-02 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
23 | 0.763 | 0.280 | 9 | 85596450 | splice acceptor variant | C/A | snv | 0.700 | 0 | ||||||||
|
23 | 0.763 | 0.280 | 9 | 85588465 | frameshift variant | G/- | del | 4.0E-06 | 7.0E-06 | 0.700 | 0 | ||||||
|
30 | 0.667 | 0.480 | 19 | 44905579 | upstream gene variant | T/G | snv | 0.58 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.080 | 11 | 75263946 | 3 prime UTR variant | C/T | snv | 1.5E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
43 | 0.677 | 0.600 | 2 | 25743913 | frameshift variant | G/- | delins | 0.700 | 0 | ||||||||
|
32 | 0.708 | 0.520 | 7 | 70766248 | missense variant | C/T | snv | 0.700 | 0 | ||||||||
|
272 | 0.436 | 0.760 | 11 | 27658369 | missense variant | C/T | snv | 0.19 | 0.15 | 0.010 | 1.000 | 1 | 2016 | 2016 |