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 | 0.851 | 0.080 | 1 | 38528443 | intergenic variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 10 | 60043304 | non coding transcript exon variant | T/G | snv | 0.14 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 5 | 103389394 | intergenic variant | G/A | snv | 0.13 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 17 | 28392769 | intron variant | G/A;T | snv | 0.12 | 0.700 | 1.000 | 1 | 2017 | 2017 | ||||
|
4 | 0.851 | 0.080 | 8 | 2180583 | regulatory region variant | G/A | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 14 | 95641618 | intron variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 14 | 101008533 | intron variant | C/T | snv | 9.7E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
5 | 0.827 | 0.080 | 17 | 28283226 | intron variant | C/T | snv | 9.1E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 1 | 76660688 | intergenic variant | C/A | snv | 8.9E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 13 | 85529954 | intron variant | C/A | snv | 8.4E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 5 | 11084600 | intron variant | G/A | snv | 7.8E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 12 | 130971904 | intron variant | G/A | snv | 7.5E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 18 | 41607206 | intron variant | T/G | snv | 7.0E-02 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
4 | 0.851 | 0.080 | 4 | 27902934 | intergenic variant | G/A | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 2 | 193714051 | intergenic variant | A/G | snv | 3.3E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
4 | 0.851 | 0.080 | 3 | 143629403 | intron variant | A/G | snv | 2.0E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
5 | 0.827 | 0.080 | 10 | 92524312 | intron variant | T/A | snv | 1.9E-02 | 0.700 | 1.000 | 1 | 2016 | 2016 | ||||
|
2 | 1.000 | 0.080 | 2 | 74361590 | missense variant | G/A | snv | 2.9E-03 | 2.8E-03 | 0.700 | 1.000 | 5 | 2004 | 2012 | |||
|
4 | 0.851 | 0.080 | 21 | 42230666 | intron variant | C/T | snv | 1.8E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
16 | 0.732 | 0.200 | 21 | 31667290 | missense variant | A/C;T | snv | 1.4E-03 | 1.2E-03 | 0.800 | 1.000 | 20 | 1993 | 2009 | |||
|
1 | 1.000 | 0.080 | 17 | 35844483 | missense variant | G/A | snv | 5.6E-05 | 1.1E-04 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 17 | 35820067 | missense variant | G/A | snv | 1.6E-05 | 6.3E-05 | 0.010 | 1.000 | 1 | 2011 | 2011 | |||
|
2 | 0.925 | 0.080 | 3 | 49358271 | missense variant | G/A | snv | 1.5E-05 | 3.5E-05 | 0.010 | 1.000 | 1 | 2004 | 2004 | |||
|
4 | 0.882 | 0.120 | 2 | 74363337 | missense variant | C/T | snv | 2.8E-05 | 2.1E-05 | 0.700 | 1.000 | 2 | 2004 | 2005 | |||
|
1 | 1.000 | 0.080 | 22 | 37103352 | synonymous variant | C/T | snv | 8.0E-06 | 2.1E-05 | 0.010 | 1.000 | 1 | 2001 | 2001 |