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 | 1.000 | 0.120 | 5 | 159323135 | missense variant | C/T | snv | 3.8E-04 | 1.5E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
2 | 0.925 | 0.120 | 1 | 45561805 | missense variant | C/G;T | snv | 4.0E-06; 4.3E-04 | 1.9E-03 | 0.010 | 1.000 | 1 | 2007 | 2007 | |||
|
3 | 1.000 | 0.120 | 4 | 184627976 | 3 prime UTR variant | G/T | snv | 0.48 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
1 | 1.000 | 0.120 | 5 | 159326751 | missense variant | A/G | snv | 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
2 | 0.925 | 0.120 | 8 | 90001503 | missense variant | C/T | snv | 0.010 | 1.000 | 1 | 2007 | 2007 | |||||
|
40 | 0.623 | 0.680 | 21 | 43062358 | missense variant | G/A;T | snv | 8.0E-06; 4.0E-06 | 0.010 | 1.000 | 1 | 2007 | 2007 | ||||
|
119 | 0.495 | 0.840 | 1 | 206773062 | 5 prime UTR variant | T/G | snv | 0.69 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
1 | 1.000 | 0.120 | 4 | 102575280 | intron variant | C/A;T | snv | 0.010 | 1.000 | 1 | 2008 | 2008 | |||||
|
134 | 0.487 | 0.760 | 19 | 45351661 | stop gained | T/A;G | snv | 4.0E-06; 0.32 | 0.040 | 0.750 | 4 | 2009 | 2015 | ||||
|
72 | 0.557 | 0.640 | 19 | 45364001 | missense variant | C/A;T | snv | 7.1E-06; 0.29 | 0.040 | 0.750 | 4 | 2009 | 2017 | ||||
|
2 | 1.000 | 0.120 | 6 | 408833 | 3 prime UTR variant | G/C | snv | 0.11 | 0.020 | 1.000 | 2 | 2009 | 2009 | ||||
|
188 | 0.457 | 0.880 | 11 | 67585218 | missense variant | A/G | snv | 0.34 | 0.36 | 0.020 | 1.000 | 2 | 2009 | 2013 | |||
|
46 | 0.611 | 0.600 | 10 | 44372809 | 3 prime UTR variant | C/T | snv | 0.16 | 0.020 | 1.000 | 2 | 2009 | 2018 | ||||
|
205 | 0.441 | 0.800 | 19 | 43551574 | missense variant | T/C | snv | 0.68 | 0.71 | 0.020 | 1.000 | 2 | 2009 | 2016 | |||
|
78 | 0.550 | 0.720 | 19 | 43552260 | missense variant | C/G;T | snv | 8.5E-06; 7.1E-02 | 0.020 | 0.500 | 2 | 2009 | 2016 | ||||
|
2 | 1.000 | 0.120 | 4 | 38764099 | intergenic variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.882 | 0.160 | 1 | 100718269 | upstream gene variant | T/C | snv | 0.18 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
88 | 0.533 | 0.720 | 15 | 74720644 | missense variant | T/A;C;G | snv | 0.11 | 5.9E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
3 | 0.882 | 0.160 | 11 | 45852713 | intron variant | A/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
38 | 0.649 | 0.320 | 6 | 396321 | intron variant | C/T | snv | 0.10 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
11 | 0.776 | 0.200 | 17 | 40300899 | missense variant | G/A;C | snv | 0.15; 8.0E-06 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.882 | 0.160 | 11 | 45858559 | intron variant | C/G | snv | 0.19 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 19 | 6586487 | intron variant | T/C | snv | 9.4E-02 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.120 | 11 | 105052348 | intron variant | A/T | snv | 0.45 | 0.010 | 1.000 | 1 | 2009 | 2009 |