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. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
5 | 0.882 | 0.200 | 1 | 24977085 | intergenic variant | A/G | snv | 0.56 | 0.700 | 1.000 | 2 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 202086810 | intergenic variant | A/G | snv | 0.77 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 158962765 | intron variant | C/T | snv | 0.92 | 0.800 | 1.000 | 1 | 2011 | 2011 | ||||
|
3 | 0.752 | 0.320 | 1 | 67236843 | intron variant | T/G | snv | 4.4E-02 | 5.4E-02 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
4 | 0.827 | 0.200 | 1 | 200966738 | downstream gene variant | T/C | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 1.000 | 0.080 | 1 | 202421786 | intron variant | C/T | snv | 3.5E-05 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.120 | 1 | 19813543 | upstream gene variant | G/A;T | snv | 0.24 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 12359827 | intron variant | G/A | snv | 3.7E-03 | 0.700 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 1 | 152523536 | intergenic variant | A/C | snv | 0.79 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 197763925 | intron variant | G/A | snv | 0.85 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 203199346 | intergenic variant | A/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
3 | 0.827 | 0.200 | 1 | 160882256 | non coding transcript exon variant | T/C | snv | 0.65 | 0.58 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
13 | 0.498 | 0.800 | 1 | 113834946 | missense variant | A/G | snv | 0.93 | 0.93 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 197356778 | intron variant | T/A;G | snv | 0.810 | 1.000 | 1 | 2010 | 2010 | |||||
|
5 | 0.882 | 0.200 | 1 | 192567683 | intron variant | C/A | snv | 0.79 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
5 | 0.882 | 0.200 | 1 | 200923009 | intron variant | T/C | snv | 0.53 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.752 | 0.520 | 1 | 159715346 | upstream gene variant | A/G | snv | 0.13 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
6 | 0.827 | 0.200 | 1 | 2595307 | missense variant | A/G | snv | 0.41 | 0.46 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
1 | 1.000 | 0.080 | 1 | 202495632 | missense variant | C/T | snv | 3.6E-05 | 7.0E-06 | 0.700 | 1.000 | 1 | 2011 | 2011 | |||
|
5 | 0.807 | 0.200 | 1 | 154453788 | intron variant | C/G;T | snv | 0.820 | 0.667 | 1 | 2011 | 2018 | |||||
|
1 | 1.000 | 0.080 | 1 | 202082885 | TF binding site variant | T/A | snv | 0.80 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 225786829 | intron variant | A/G;T | snv | 0.63 | 0.700 | 1.000 | 1 | 2011 | 2011 | ||||
|
1 | 1.000 | 0.080 | 1 | 203190998 | upstream gene variant | G/T | snv | 0.84 | 0.700 | 1.000 | 1 | 2000 | 2000 | ||||
|
1 | 1.000 | 0.080 | 1 | 152504267 | intergenic variant | T/A | snv | 0.77 | 0.700 | 1.000 | 1 | 2012 | 2012 | ||||
|
1 | 1.000 | 0.080 | 1 | 152557146 | intergenic variant | T/C | snv | 0.78 | 0.700 | 1.000 | 1 | 2011 | 2011 |