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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
4 | 0.925 | 0.080 | 7 | 100717894 | upstream gene variant | A/G | snv | 0.84 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 7 | 100825743 | intron variant | T/A;C;G | snv | 0.29 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
1 | X | 100850206 | missense variant | C/T | snv | 1.9E-02 | 2.0E-02 | 0.010 | < 0.001 | 1 | 2018 | 2018 | |||||
|
12 | 0.742 | 0.280 | 12 | 10118488 | stop gained | A/C;G | snv | 6.2E-02 | 0.010 | < 0.001 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 3 | 101304904 | intron variant | A/G | snv | 0.40 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
3 | 1.000 | 0.040 | 4 | 101944147 | intron variant | G/A | snv | 4.1E-02 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
3 | 1.000 | 0.040 | 2 | 102322576 | intron variant | C/T | snv | 0.30 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
1 | 2 | 102367819 | splice region variant | T/C | snv | 0.35 | 0.33 | 0.700 | 1.000 | 1 | 2015 | 2015 | |||||
|
4 | 0.882 | 0.280 | 2 | 102437989 | intron variant | G/A | snv | 0.78 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
2 | 1.000 | 0.040 | 2 | 102446909 | intron variant | G/A | snv | 0.78 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
20 | 0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv | 0.810 | 1.000 | 2 | 2008 | 2012 | |||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2017 | 2017 | |||||
|
1 | 10 | 102504350 | intron variant | C/G;T | snv | 0.48 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||||
|
38 | 0.637 | 0.560 | 19 | 10284116 | missense variant | G/A | snv | 0.11 | 9.3E-02 | 0.020 | 1.000 | 2 | 2006 | 2006 | |||
|
1 | 19 | 10284797 | missense variant | G/A | snv | 0.010 | 1.000 | 1 | 2006 | 2006 | |||||||
|
99 | 0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 | 0.060 | 1.000 | 6 | 2003 | 2015 | |||
|
25 | 0.667 | 0.400 | 19 | 10352442 | missense variant | G/C | snv | 2.7E-02 | 2.8E-02 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
9 | 0.790 | 0.160 | 19 | 10354167 | missense variant | G/A | snv | 4.6E-03 | 4.9E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
12 | 0.752 | 0.360 | 19 | 10359299 | missense variant | A/C;G | snv | 6.1E-02; 4.0E-06 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 19 | 10402235 | intron variant | G/A;C | snv | 0.800 | 1.000 | 2 | 2012 | 2017 | |||||
|
2 | 1.000 | 0.040 | 19 | 10414505 | intron variant | G/A | snv | 0.18 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
15 | 0.716 | 0.320 | 9 | 104818690 | synonymous variant | A/G | snv | 7.0E-06 | 0.020 | 0.500 | 2 | 2006 | 2007 | ||||
|
3 | 1.000 | 0.040 | 4 | 105154341 | intron variant | T/G | snv | 0.62 | 0.700 | 1.000 | 1 | 2015 | 2015 | ||||
|
2 | 1.000 | 0.040 | 6 | 105987150 | regulatory region variant | A/G | snv | 0.23 | 0.800 | 1.000 | 1 | 2012 | 2012 | ||||
|
5 | 0.851 | 0.160 | 6 | 105987394 | regulatory region variant | G/A;C | snv | 0.700 | 1.000 | 1 | 2017 | 2017 |