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 | 1.000 | 0.080 | 19 | 16437564 | intron variant | A/G | snv | 0.63 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 12 | 9723495 | intron variant | G/A | snv | 0.55 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 5 | 159491886 | intron variant | G/A | snv | 0.16 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
32 | 0.637 | 0.600 | 3 | 169774313 | synonymous variant | C/T | snv | 0.29 | 0.21 | 0.800 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 100941963 | non coding transcript exon variant | A/G | snv | 0.28 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 16 | 11072831 | intron variant | C/A | snv | 0.40 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.080 | 1 | 100865980 | intergenic variant | T/C | snv | 0.48 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.280 | 6 | 90287050 | intron variant | A/G | snv | 0.38 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 2 | 43131922 | non coding transcript exon variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 10 | 79274913 | intron variant | G/A | snv | 0.32 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 6 | 137646077 | intergenic variant | G/A | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 8 | 1935186 | intron variant | T/C;G | snv | 0.800 | 1.000 | 1 | 2013 | 2013 | |||||
|
1 | 1.000 | 0.080 | 16 | 85977427 | intron variant | C/A;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 3 | 28037594 | intron variant | C/G;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
1 | 1.000 | 0.080 | 2 | 111907624 | intron variant | C/T | snv | 0.24 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 3 | 140380851 | intron variant | C/T | snv | 4.4E-02 | 0.800 | 1.000 | 1 | 2013 | 2013 | ||||
|
1 | 1.000 | 0.080 | 12 | 123172178 | intron variant | G/T | snv | 0.63 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 0.925 | 0.160 | 8 | 128180025 | intron variant | T/C | snv | 0.27 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.240 | 6 | 32635230 | intron variant | A/G | snv | 0.23 | 0.800 | 1.000 | 1 | 2010 | 2010 | ||||
|
1 | 1.000 | 0.080 | 14 | 88021345 | intron variant | C/A | snv | 0.11 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 9 | 5893861 | intron variant | G/A;C;T | snv | 0.800 | 1.000 | 1 | 2011 | 2011 | |||||
|
10 | 0.763 | 0.480 | 17 | 42329511 | intron variant | G/A;C;T | snv | 2.8E-05; 0.59; 1.6E-05 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.882 | 0.160 | 3 | 119501087 | intron variant | G/A | snv | 0.18 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 14 | 75539214 | intron variant | T/C | snv | 0.20 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 19 | 49365794 | missense variant | T/G | snv | 0.29 | 0.26 | 0.800 | 1.000 | 1 | 2011 | 2011 |