| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.597 | 0.680 | 1 | 67240275 | missense variant | G/A | snv | 4.2E-02 | 4.6E-02 |
|
0.900 | 0.773 | 3 | 2006 | 2020 | |||||||
|
0.925 | 0.040 | 1 | 1312114 | synonymous variant | T/A;C;G | snv | 0.56 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 22375738 | intergenic variant | T/C | snv | 0.21 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.925 | 0.040 | 1 | 197662011 | intron variant | G/A | snv | 0.22 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
1.000 | 0.040 | 1 | 70529879 | upstream gene variant | G/A | snv | 0.30 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.790 | 0.320 | 1 | 206766559 | upstream gene variant | G/A | snv | 0.11 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 1 | 7961913 | 5 prime UTR variant | G/C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.040 | 1 | 160887174 | upstream gene variant | A/G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
0.776 | 0.200 | 1 | 151829204 | intron variant | G/A;C;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2017 | |||||||||
|
1.000 | 0.040 | 1 | 155908941 | intron variant | A/G | snv | 0.48 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.689 | 0.600 | 1 | 67215986 | intron variant | T/G | snv | 0.37 |
|
0.720 | 1.000 | 1 | 2006 | 2010 | ||||||||
|
0.925 | 0.040 | 1 | 200908434 | intron variant | C/A | snv | 0.22 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
1.000 | 0.040 | 2 | 43579779 | intron variant | C/T | snv | 0.13 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.851 | 0.160 | 2 | 191066738 | intron variant | A/C | snv | 0.45 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.724 | 0.280 | 2 | 162254026 | regulatory region variant | A/G | snv | 0.46 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.040 | 2 | 218286495 | 5 prime UTR variant | A/C | snv | 0.61 |
|
0.810 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.807 | 0.120 | 2 | 240630275 | missense variant | C/T | snv | 0.16; 9.4E-06 | 0.19 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | |||||||
|
2 | 24896016 | intron variant | C/T | snv | 0.53 |
|
0.800 | 1.000 | 1 | 2012 | 2012 | ||||||||||
|
1.000 | 0.040 | 2 | 65440138 | intron variant | C/A | snv | 0.78 |
|
0.800 | 1.000 | 1 | 2012 | 2015 | ||||||||
|
0.827 | 0.120 | 2 | 60977721 | intron variant | A/G | snv | 0.37 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.701 | 0.480 | 2 | 102454108 | downstream gene variant | T/A;C | snv |
|
0.810 | 1.000 | 1 | 2008 | 2012 | |||||||||
|
0.827 | 0.120 | 2 | 28391927 | intron variant | C/T | snv | 0.38 |
|
0.800 | 1.000 | 1 | 2012 | 2017 | ||||||||
|
0.732 | 0.280 | 3 | 49684099 | missense variant | G/A | snv | 0.26 | 0.27 |
|
0.850 | 1.000 | 1 | 2008 | 2017 | |||||||
|
1.000 | 0.040 | 3 | 18725912 | intron variant | C/A;G;T | snv |
|
0.800 | 1.000 | 1 | 2012 | 2012 |