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. | ||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1.000 | 0.120 | 6 | 29950322 | downstream gene variant | G/A;T | snv |
|
0.710 | 1.000 | 3 | 2009 | 2015 | |||||||||
|
1.000 | 0.120 | 6 | 29967114 | downstream gene variant | A/G | snv | 5.5E-02 |
|
0.720 | 1.000 | 3 | 2009 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 29972711 | upstream gene variant | T/C | snv | 0.74 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | 6 | 29964889 | intergenic variant | G/A | snv | 0.22 |
|
0.700 | 1.000 | 3 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | 3 | 37477054 | intron variant | T/A | snv | 0.13 |
|
0.710 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
0.807 | 0.440 | 6 | 29608616 | missense variant | A/C;G | snv | 4.1E-06; 0.18 |
|
0.700 | 1.000 | 2 | 2010 | 2012 | ||||||||
|
0.925 | 0.240 | 6 | 29643654 | intergenic variant | C/T | snv | 0.39 |
|
0.740 | 1.000 | 2 | 2009 | 2018 | ||||||||
|
1.000 | 0.120 | 6 | 29702484 | regulatory region variant | A/G | snv | 0.24 |
|
0.720 | 1.000 | 2 | 2009 | 2017 | ||||||||
|
1.000 | 0.120 | 6 | 29703963 | downstream gene variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 2 | 2009 | 2010 | ||||||||
|
1.000 | 0.120 | 6 | 29948728 | downstream gene variant | C/T | snv | 0.66 |
|
0.700 | 1.000 | 2 | 2009 | 2012 | ||||||||
|
1.000 | 0.120 | 16 | 83940313 | intron variant | G/A;C | snv |
|
0.700 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.240 | 8 | 127081052 | non coding transcript exon variant | C/T | snv | 0.20 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.160 | 19 | 33041394 | intron variant | C/T | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.658 | 0.400 | 8 | 127395198 | intron variant | A/G | snv | 0.40 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.641 | 0.600 | 15 | 78601997 | synonymous variant | G/A | snv | 0.27 | 0.26 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.724 | 0.160 | 10 | 8659256 | upstream gene variant | G/A | snv | 0.24 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.742 | 0.200 | 10 | 61963818 | intron variant | C/T | snv | 0.69 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.200 | 11 | 69227200 | intergenic variant | A/G | snv | 0.53 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 3 | 128319530 | intron variant | C/A | snv | 0.43 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.763 | 0.280 | 10 | 46046326 | 5 prime UTR variant | A/G | snv | 0.54 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.200 | 19 | 46704397 | splice region variant | G/A | snv | 0.17 | 0.16 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||
|
0.925 | 0.200 | 6 | 140848688 | intron variant | A/G | snv | 8.5E-02 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.882 | 0.160 | 11 | 69211113 | regulatory region variant | G/A | snv | 0.16 |
|
0.700 | 1.000 | 1 | 2010 | 2010 | ||||||||
|
0.827 | 0.160 | 1 | 121538815 | intron variant | A/C;G | snv |
|
0.700 | 1.000 | 1 | 2010 | 2010 | |||||||||
|
0.882 | 0.160 | 12 | 73596057 | intergenic variant | C/G | snv | 0.22 |
|
0.700 | 1.000 | 1 | 2010 | 2010 |