| 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. | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.752 | 0.240 | 5 | 150843825 | upstream gene variant | T/C | snv | 0.21 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.080 | 2 | 113131082 | synonymous variant | G/A | snv | 4.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.200 | 10 | 89015534 | 3 prime UTR variant | C/T | snv | 0.17 | 0.17 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.807 | 0.240 | 15 | 39581120 | 5 prime UTR variant | T/C | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 12 | 111806609 | intron variant | C/T | snv | 8.6E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.080 | 10 | 94338336 | intron variant | T/C;G | snv | 0.15 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 16 | 68835607 | downstream gene variant | C/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.925 | 0.080 | 1 | 97515839 | missense variant | T/C | snv | 0.20 | 0.18 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.597 | 0.800 | 1 | 161509955 | missense variant | A/C;G | snv | 4.0E-06; 0.48 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 3 | 41230590 | intron variant | C/A | snv | 0.40 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.882 | 0.120 | 17 | 7502618 | non coding transcript exon variant | C/T | snv | 0.18 | 0.17 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.851 | 0.240 | 16 | 27312083 | upstream gene variant | C/T | snv | 0.35 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 17 | 50072022 | synonymous variant | C/T | snv | 0.17 | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.827 | 0.200 | 3 | 41239336 | synonymous variant | C/T | snv | 3.2E-02 | 1.2E-02 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.708 | 0.440 | 20 | 32786453 | intron variant | C/T | snv | 0.56 | 0.53 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||
|
0.925 | 0.080 | 5 | 145353893 | intron variant | T/C | snv | 4.5E-03 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 4 | 99344800 | intron variant | C/A;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.790 | 0.160 | 8 | 142681306 | intron variant | C/A;G | snv | 0.42; 2.5E-04 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 1 | 226402338 | missense variant | G/A;C | snv | 7.0E-06 |
|
0.010 | < 0.001 | 1 | 2012 | 2012 | ||||||||
|
0.851 | 0.120 | 10 | 94310618 | intron variant | A/G | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.742 | 0.320 | 3 | 41237949 | non coding transcript exon variant | A/G | snv | 0.19 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.925 | 0.080 | 10 | 60803097 | regulatory region variant | G/C;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.807 | 0.120 | 5 | 150860025 | intron variant | G/A | snv | 0.25 |
|
0.010 | 1.000 | 1 | 2012 | 2012 | ||||||||
|
0.583 | 0.560 | 1 | 186673926 | 3 prime UTR variant | A/G;T | snv |
|
0.010 | 1.000 | 1 | 2012 | 2012 | |||||||||
|
0.531 | 0.760 | 19 | 10285007 | missense variant | A/G | snv | 0.44 | 0.37 |
|
0.010 | 1.000 | 1 | 2012 | 2012 |