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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 | 1.000 | 0.040 | 7 | 100857102 | missense variant | A/G | snv | 7.2E-05 | 1.2E-04 | 0.010 | 1.000 | 1 | 1998 | 1998 | |||
|
12 | 0.763 | 0.160 | 19 | 10162696 | missense variant | T/A;C;G | snv | 0.14 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
5 | 0.827 | 0.120 | 5 | 102498596 | missense variant | G/C | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
56 | 0.592 | 0.720 | 4 | 102500998 | non coding transcript exon variant | ATTG/- | delins | 0.010 | 1.000 | 1 | 2016 | 2016 | |||||
|
11 | 0.776 | 0.360 | 11 | 102725749 | intron variant | A/C;G | snv | 0.010 | 1.000 | 1 | 2011 | 2011 | |||||
|
52 | 0.597 | 0.560 | 13 | 102875652 | missense variant | G/C | snv | 0.28 | 0.30 | 0.020 | 1.000 | 2 | 2011 | 2015 | |||
|
104 | 0.519 | 0.680 | 14 | 103699416 | missense variant | G/A | snv | 0.29 | 0.30 | 0.020 | 0.500 | 2 | 2010 | 2016 | |||
|
4 | 0.851 | 0.080 | 10 | 103909085 | intron variant | G/A | snv | 0.88 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
2 | 1.000 | 0.040 | 14 | 104776711 | missense variant | G/T | snv | 0.700 | 1.000 | 1 | 2014 | 2014 | |||||
|
2 | 0.925 | 0.040 | 14 | 104780190 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2015 | 2015 | ||||
|
54 | 0.595 | 0.640 | 14 | 104780214 | missense variant | C/T | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.040 | 9 | 104831015 | missense variant | T/A | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.040 | 4 | 105218230 | intron variant | T/C | snv | 0.12 | 0.810 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 105756594 | intergenic variant | T/C | snv | 7.7E-02 | 0.810 | 1.000 | 2 | 2012 | 2014 | ||||
|
1 | 1.000 | 0.040 | 10 | 105763169 | intergenic variant | G/A | snv | 6.3E-02 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.040 | 2 | 105809256 | intron variant | C/T | snv | 0.25 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 9 | 106298549 | intron variant | T/C;G | snv | 0.700 | 1.000 | 1 | 2017 | 2017 | |||||
|
4 | 0.851 | 0.080 | 9 | 107947454 | regulatory region variant | A/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
7 | 0.827 | 0.080 | 11 | 108227849 | missense variant | C/G;T | snv | 7.1E-03 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
5 | 0.851 | 0.360 | 11 | 108267344 | splice donor variant | T/C | snv | 4.0E-06 | 0.700 | 0 | |||||||
|
39 | 0.627 | 0.400 | 11 | 108304735 | missense variant | G/A | snv | 0.11 | 0.11 | 0.810 | 1.000 | 3 | 2011 | 2017 | |||
|
35 | 0.630 | 0.360 | 4 | 109912954 | 5 prime UTR variant | A/G | snv | 0.51 | 0.020 | 0.500 | 2 | 2013 | 2015 | ||||
|
1 | 1.000 | 0.040 | 4 | 109963240 | synonymous variant | A/G | snv | 9.7E-03 | 1.0E-02 | 0.010 | 1.000 | 1 | 2017 | 2017 | |||
|
1 | 1.000 | 0.040 | 13 | 110715751 | missense variant | G/C;T | snv | 0.010 | 1.000 | 1 | 2004 | 2004 | |||||
|
1 | 1.000 | 0.040 | 2 | 111142384 | missense variant | A/C | snv | 1.3E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2009 | 2009 |