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 | 1 | 246320481 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 83199436 | intergenic variant | A/G | snv | 9.6E-02 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 100000723 | non coding transcript exon variant | G/A | snv | 0.15 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 238358337 | intron variant | G/T | snv | 0.17 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.160 | 1 | 100206504 | missense variant | T/A;C | snv | 0.92 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 244811284 | intergenic variant | C/T | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 60202030 | intergenic variant | C/T | snv | 0.12 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 211337552 | intron variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 74782438 | intergenic variant | G/A | snv | 0.65 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 4364085 | intergenic variant | G/A;T | snv | 0.11 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
2 | 1.000 | 0.040 | 1 | 54584133 | intron variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
7 | 0.807 | 0.200 | 20 | 63686867 | non coding transcript exon variant | T/C | snv | 8.8E-02 | 0.800 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 11 | 71165389 | intron variant | T/C | snv | 0.64 | 0.700 | 1.000 | 1 | 2009 | 2009 | ||||
|
1 | 1.000 | 0.040 | 12 | 128062664 | intron variant | C/A;T | snv | 0.700 | 1.000 | 1 | 2009 | 2009 | |||||
|
42 | 0.630 | 0.600 | 6 | 88143916 | synonymous variant | C/T | snv | 0.21 | 0.20 | 0.010 | 1.000 | 1 | 2010 | 2010 | |||
|
113 | 0.507 | 0.800 | 1 | 206773552 | intron variant | T/C | snv | 0.41 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
57 | 0.576 | 0.600 | 1 | 186681189 | non coding transcript exon variant | C/G;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.040 | 8 | 129465577 | intron variant | C/T | snv | 0.80 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
1 | 1.000 | 0.040 | 8 | 129653397 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 2 | 2009 | 2011 | ||||
|
8 | 0.827 | 0.160 | 9 | 22081398 | intron variant | G/T | snv | 0.62 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
7 | 0.807 | 0.080 | 9 | 22056500 | intron variant | G/A | snv | 0.50 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
11 | 0.776 | 0.240 | 12 | 57095926 | 3 prime UTR variant | T/C | snv | 8.0E-02 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
4 | 0.925 | 0.120 | 11 | 118709156 | intron variant | G/A | snv | 0.19 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.040 | 11 | 118618067 | intron variant | A/C | snv | 0.22 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.040 | 11 | 118685689 | downstream gene variant | G/A | snv | 0.20 | 0.700 | 1.000 | 1 | 2011 | 2011 |