Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Disease | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.851 | 0.120 | 5 | 112838934 | stop gained | C/A;T | snv | 8.0E-06 |
|
0.700 | 1.000 | 2 | 2008 | 2014 | ||||||||
|
0.351 | 0.840 | 7 | 140753336 | missense variant | A/C;G;T | snv | 4.0E-06 |
|
0.800 | 1.000 | 1 | 2008 | 2019 | ||||||||
|
0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 |
|
0.880 | 1.000 | 5 | 2009 | 2016 | ||||||||
|
0.882 | 0.120 | 1 | 78157942 | regulatory region variant | C/T | snv | 7.8E-02 |
|
0.800 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
0.620 | 0.640 | 5 | 1321972 | intron variant | C/T | snv | 0.48 |
|
0.810 | 1.000 | 2 | 2009 | 2019 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.810 | 1.000 | 1 | 2009 | 2014 | |||||||
|
0.925 | 0.080 | 15 | 78450412 | intron variant | C/A;G | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.827 | 0.080 | 15 | 78500185 | 3 prime UTR variant | T/C | snv | 0.39 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.882 | 0.240 | 6 | 32096949 | missense variant | T/C;G | snv | 5.9E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 15 | 78691217 | intron variant | C/A;G;T | snv | 0.28 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.280 | 6 | 29569447 | intron variant | A/G | snv | 6.0E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 15 | 78637030 | intron variant | G/A | snv | 0.63 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 4 | 16841093 | intron variant | G/A | snv | 0.18 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 15 | 78654291 | intron variant | C/T | snv | 0.14 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.742 | 0.440 | 6 | 31951083 | non coding transcript exon variant | A/G | snv | 7.5E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.080 | 15 | 78599285 | intron variant | G/A;C;T | snv |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||||
|
0.790 | 0.160 | 15 | 78606381 | intron variant | C/A;T | snv |
|
0.710 | 1.000 | 1 | 2009 | 2014 | |||||||||
|
0.925 | 0.080 | 15 | 78638168 | intron variant | A/G;T | snv | 0.62 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.851 | 0.160 | 15 | 78497146 | synonymous variant | C/T | snv | 0.54 | 0.51 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | |||||||
|
0.925 | 0.080 | 15 | 78432127 | intergenic variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
1.000 | 0.040 | 15 | 78677917 | intron variant | T/C | snv | 8.7E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.925 | 0.080 | 15 | 78661443 | non coding transcript exon variant | C/T | snv | 0.19 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.807 | 0.320 | 6 | 32698749 | intergenic variant | C/T | snv | 6.4E-02 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.827 | 0.080 | 15 | 78534606 | 3 prime UTR variant | T/C | snv | 0.26 |
|
0.700 | 1.000 | 1 | 2009 | 2009 | ||||||||
|
0.701 | 0.480 | 6 | 32638107 | intron variant | C/T | snv | 3.3E-03 |
|
0.700 | 1.000 | 1 | 2009 | 2009 |